SKIN DISORDERS GENE PANEL DGD

Transcription

1 SKIN DISORDERS GENE PANEL DGD Gene Median coverage % covered > 10x % covered > 20x Associated Phenotype description and OMIM ID AAAS % 100% Achalasia-addisonianism-alacrimia syndrome, AAGAB % 98% Keratoderma palmoplantar punctate type IA, ABCA % 99% Ichthyosis, autosomal recessive 4B (harlequin), Ichthyosis, congenital, autosomal recessive 4A, ABCB % 100% Dyschromatosis universalis hereditaria 3, Microphthalmia,isolated, with coloboma 7, [Blood group, Langereis system], ABCC % 68% Arterial calcification generalized of infancy 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, ABCC % 97% Atrial fibrillation familial 12, Cardiomyopathy, dilated, 1O, Hypertrichotic osteochondrodysplasia, ABHD % 95% Chanarin-Dorfman syndrome, ACTA % 100% Aortic aneurysm familial thoracic 6, Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome, ACVRL % 85% Telangiectasia hereditary hemorrhagic type 2, ADAM % 100% Reticulate acropigmentation of Kitamura, {Alzheimer disease 18, susceptibility to}, ADAM % 98% Inflammatory skin and bowel disease neonatal, ADAMTS % 91% Weill-Marchesani syndrome 1 recessive, ADAMTS % 79% Weill-Marchesani-like syndrome, ADAMTS % 92% Ehlers-Danlos syndrome type VIIC, ADAR % 98% Aicardi-Goutieres syndrome 6, Dyschromatosis symmetrica hereditaria, AGA % 97% Aspartylglucosaminuria,208400

2 AGPAT % 92% Lipodystrophy congenital generalized type 1, AIRE % 93% Autoimmune polyendocrinopathy syndrome type I with or without reversible metaphyseal dysplasia, AKT % 95% Breast cancer somatic, Colorectal cancer, somatic, Cowden syndrome 6, Ovarian cancer, somatic, Proteus syndrome, somatic, {Schizophrenia, susceptibility to}, AKT % 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, ALAD % 95% Porphyria acute hepatic, {Lead poisoning, susceptibility to}, ALAS % 88% Anemia sideroblastic X-linked, Protoporphyria, erythropoietic, X-linked, ALDH18A % 92% Cutis laxa autosomal recessive type IIIA, ALDH3A % 100% Sjogren-Larsson syndrome, ALDOB % 98% Fructose intolerance, ALOX12B % 100% Ichthyosis congenital autosomal recessive 2, ALOXE % 100% Ichthyosis congenital autosomal recessive 3, ALPL % 100% Hypophosphatasia, adult, Hypophosphatasia, childhood, Hypophosphatasia, infantile, Odontohypophosphatasia, ALX % 93% Frontonasal dysplasia 2, Parietal foramina 2, {Craniosynostosis 5, susceptibility to}, AMELX % 100% Amelogenesis imperfecta, type 1E, ANKRD % 87% KBG syndrome, ANTXR % 92% GAPO syndrome, {Hemangioma, capillary infantile, susceptibility to}, ANTXR % 97% Hyaline fibromatosis syndrome, AP3B % 100% Hermansky-Pudlak syndrome 2,608233

3 APC % 100% Adenoma,periampullary,somatic, Adenomatous polyposis coli, Brain tumor-polyposis syndrome 2, Colorectal cancer,somatic, Desmoid disease,hereditary, Gardner syndrome, Gastric cancer,somatic, Hepatoblastoma,somatic, APCDD % 100% Hypotrichosis 1, AQP % 99% Palmoplantar keratoderma, Bothnian type, ARHGAP % 99% Adams-Oliver syndrome 1, ARID1A % 94% Mental retardation autosomal dominant 14, ARID1B % 95% Mental retardation,autosomal dominant 12, ASIP % 71% [Skin/hair/eye pigmentation 9], ASL % 93% Argininosuccinic aciduria, ASXL % 97% Bohring-Opitz syndrome, Myelodysplastic syndrome,somatic, ASXL % 99% Bainbridge-Ropers syndrome, ATIC % 96% AICA-ribosiduria due to ATIC deficiency, ATP2A % 100% Acrokeratosis verruciformis, Darier disease, ATP2C % 99% Hailey-Hailey disease, ATP6V0A % 100% Cutis laxa,autosomal recessive,type IIA, Wrinkly skin syndrome, ATP7A % 100% Menkes disease, Occipital horn syndrome, Spinal muscular atrophy,distal,x-linked, ATR % 99% Cutaneous telangiectasia and cancer syndrome familial, Seckel syndrome 1, AXIN % 90% Colorectal cancer somatic, Oligodontia-colorectal cancer syndrome, B3GALT % 75% Ehlers-Danlos syndrome progeroid type 2, Spondyloepimetaphyseal dysplasia with joint laxity, type 1,with or without fractures, B4GALT % 95% Ehlers-Danlos syndrome progeroid type 1,130070

4 BANF % 54% Nestor-Guillermo progeria syndrome, BAP % 99% Tumor predisposition syndrome, BCOR % 99% Microphthalmia syndromic 2, BCS1L % 100% Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III defiency, nuclear type 1, BLM % 98% Bloom syndrome, BLOC1S % 35% Hermansky-Pudlak syndrome 8, BLOC1S % 82% Hermansky-pudlak syndrome 9, BMS % 37% Aplasia cutis congenita, nonsyndromic, BRAF % 97% Adenocarcinoma of lung,somatic, Cardiofaciocutaneous syndrome, LEOPARD syndrome 3, Noonan syndrome 7, BRIP % 100% Breast cancer early-onset, Fanconi anemia,complementation group J, BSCL % 100% Encephalopathy, progressive, with or without lipodystrophy, Lipodystrophy congenital generalized type 2, Neuropathy, distal hereditary motor, type VA, Silver spastic paraplegia syndrome, BTD % 100% Biotinidase deficiency, C10orf % 99% Albinism, oculocutaneous type VII, C1QA % 89% C1q deficiency, C1QB % 88% C1q deficiency, C1QC % 70% C1q deficiency, C2CD % 95%?Orofaciodigital syndrome XIV, C4orf % 100% Amelogenesis imperfecta, type IIA4, CA % 100% Osteopetrosis,autosomal recessive 3,with renal tubular acidosis, CARD % 90% Pityriasis rubra pilaris, Psoriasis 2, CARD % 97% Candidiasis,familial 2,autosomal recessive, CAST % 97% PLACK syndrome,616295

5 CAV % 100%?Lipodystrophy,congenital generalized,type 3,612526?Partial lipodystrophy, congenital cataracts and neurodegeneration syndrome, Pulmonary hypertension, primary, 3, CBL % 100% Noonan syndrome-like disorder,with or without juvenile meylomonocytic leukemia, CBS % 84% Homocystinuria B6-responsive and nonresponsive types, Thrombosis,hyperhomocysteinemic, CCBE % 89% Hennekam lymphangiectasia-lymphedema syndrome, CD % 100% Nephropathy with pretibial epidermolysis bullosa and deafness, [Blood group, Raph], CDAN % 98% Dyserythropoietic anemia, congenital, type Ia, CDH % 95% Ectodermal dysplasia,ectrodactyly and macular dystrophy, Hypotrichosis, congenital, with juvenile macular dystrophy, CDK % 90% {Melanoma, cutaneous malignant, 3}, CDKN2A % 93% Melanoma and neural system tumor syndrome, Pancreatic cancer/melanoma syndrome, {Melanoma,cutaneous malignant, 2}, CDSN % 19% Hypotrichosis 2, Peeling skin syndrome 1, CECR % 95%?Sneddon syndrome, Polyarteritis nodosa, childhood-onset, CERS % 99% Ichthyosis, congenital, autosomal recessive 9, CHKB % 89% Muscular dystrophy congenital megaconial type, CHST % 96% Ehlers-Danlos syndrome musculocontractural type, CHSY % 92% Temtamy preaxial brachydactyly syndrome, CHUK % 97% Cocoon syndrome, CKAP2L % 100% Filippi syndrome, CLDN % 99% Ichthyosis,leukocyte vacuoles,alopecia and sclerosing cholangitis, CNNM % 97% Jalili syndrome,217080

6 COL17A % 93% Epidermolysis bullosa,junctional,non-herlitz type, COL1A % 92% Ehlers-Danlos syndrome,cardiac valvular form, Ehlers-Danlos syndrome, type VIIB, Osteogenesis imperfecta, type II, Osteogenesis imperfecta, type III, Osteogenesis imperfecta, type IV, {Osteoporosis, postmenopausal}, COL3A % 94% Ehlers-Danlos syndrome,type III, Ehlers-Danlos syndrome, type IV, COL5A % 97% Ehlers-Danlos syndrome, classic type I, COL5A % 94% Ehlers-Danlos syndrome, classic type I, COL7A % 99% EBD inversa, EBD, Bart type, Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR, Epidermolysis bullosa pruriginosa, Epidermolysis bullosa,pretibial, Toenail dystrophy,isolated, Transient bullous of the newborn, COX4I % 87% Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, COX7B % 98% Linear skin defects with multiple congenital anomalies, CPOX % 95% Coproporphyria, Harderoporphyria, CSTA % 100% Exfoliative ichthyosis,autosomal recessive,ichthyosis bullosa of Siemens-like, CTC % 99% Cerebroretinal microangiopathy with calcifications and cysts, CTSA % 100% Galactosialidosis, CTSC % 98% Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis 1, juvenile, CXCR % 100% Myelokathexis, isolated WHIM syndrome, CYLD % 100% Brooke-Spiegler syndrome, Cylindromatosis,familial, Trichoepithelioma,multiple familial,1,601606

7 CYP26C % 81% Focal facial dermal dysplasia 4, CYP4F % 97% Ichthyosis,congenital,autosomal recessive 5, DCAF % 97% Woodhouse-Sakati syndrome, DCLRE1C % 90% Omenn syndrome, Severe combined immunodeficiency, Athabascan type, DDB % 98% Xeroderma pigmentosum,group E,DDB-negative subtype, DHCR % 99% Smith-Lemli-Opitz syndrome, DKC % 100% Dyskeratosis congenita X-linked, DLX % 96% Amelogenesis imperfecta,type IV, Trichodontoosseous syndrome, DLX % 87%?Split-hand/foot malformation 1 with sensorineural hearing loss, DOCK % 96% Adams-Oliver syndrome 2, DOCK % 98% Hyper-IgE recurrent infection syndrome autosomal recessive, DOLK % 100% Congenital disorder of glycosylation, type Im, DSC % 99% Arrhythmogenic right ventricular dysplasia 11Without/with mild palmoplantar keratoderma and woolly hair, DSC % 98%?Hypotrichosis and recurrent skin vesicles, DSE % 84%?Ehlers-Danlos syndrome, musculocontractural type 2, DSG % 100% Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE, Keratosis palmoplantaris striata I,AD, DSG % 99% No OMIM phenotype DSG % 99% Hypotrichosis 6, DSP % 98% Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma and tooth agenesis, Epidermolysis bullosa,lethal acantholytic, Keratosis palmoplantaris striata II, Skin fragility-woolly hair syndrome,607655

8 DSPP % 96% Deafness,autosomal dominant 36,with dentinogenesis, Dentin dysplasia,type II, Dentinogenesis imperfecta, Shields type II, Dentinogenesis imperfecta, Shields type III, DTNBP % 100% Hermansky-Pudlak syndrome 7, {Schizophrenia}, DUSP % 98% Hypogonadotropic hypogonadism 19 with or without anosmia, EBP % 98% Chondrodysplasia punctata X-linked dominant, ECM % 99% Urbach-Wiethe disease, EDA % 98% Ectodermal dysplasia 1,hypohidrotic,X-linked, Tooth agenesis,selective,x-linked 1, EDAR % 100% Ectodermal dysplasia 10A,hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B,hypohidrotic/hair/tooth type, autosomal recessive, [Hair morphology 1,hair thickness], EDARADD % 95% Ectodermal dysplasia 11A,hypohidrotic/hair/tooth type, autosomal dominant, Ectodermal dysplasia 11B,hypohidrotic/hair/tooth type, autosomal recessive, EDN % 100% Central hypoventilation syndrome congenital, Waardenburg syndrome, type 4B, {Hirshprung disease,susceptibility to,4}, EDNRA % 100% mandibulofacial dysostosis with alopecia, {Migraine, resistance to}, EDNRB % 98% ABCD syndrome, Waardenburg syndrome, type 4A, {Hirshprung disease, susceptibility to, 2}, EFEMP % 100% Cutis laxa,autosomal recessive,type IB, EFNB % 100% Craniofrontonasal dysplasia, EIF2AK % 91% Wolcott-Rallison syndrome, ELN % 98% Cutis laxa AD, Supravalvar aortic stenosis, ELOVL % 100%?Spinocerebellar ataxia 34, Ichthyosis,spastic quadriplegia and mental retardation, Stargardt disease 3, ENAM % 100% Amelogenesis imperfecta type IB, Amelogenesis imperfecta type IC,204650

9 ENG % 90% Telangiectasia,hereditary hemorrhagic,type 1, ENPP % 92% Arterial calcification,generalized,of infancy 1, Cole disease, Hypophosphatemic rickets, autosomal recessive,2, {Diabetes mellitus, non-insulin-dependent, susceptibility to}, {Obesity,susceptibility to}, EPG % 99% Vici syndrome, ERCC % 96% Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, group D, ERCC % 99% Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum, group B, ERCC % 95% Fanconi anemia,complementation group Q, Xeroderma pigmentosum, group F, Xeroderma pigmentosum, type F/Cockayne syndrome, XFE progeroid syndrome, ERCC % 96% Xeroderma pigmentosum, group G, Xeroderma pigmentosum, group G/Cockayne syndrome, ERCC % 98% Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome, type B, De Sanctis-Cacchione syndrome, UV-sensitive syndrome I, {Lung cancer, susceptibility to}, {Macular degeneration, age-related, susceptibility to 5}, ERCC % 100% Cockayne syndrome type A, UV-sensitive syndrome 2, EVC % 88% Ellis-van Creveld syndrome, Weyers acrodental dysostosis, EVC % 92% Ellis-van Creveld syndrome, Weyers acrodental dysostosis, EXPH % 99% Epidermolysis bullosa,nonspecific,autosomal recessive, FAM111B % 98% Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, FAM20A % 88% Amelogenesis imperfecta,type IG (enamel-renal syndrome), FAM20C % 85% Raine syndrome,259775

10 FAM83H % 95% Amelogenesis imperfecta type 3, FANCA % 97% Fanconi anemia complementation group A, FANCB % 98% Fanconi anemia complementation group B, FANCC % 95% Fanconi anemia complementation group C, FANCD % 86% Fanconi anemia complementation group D2, FANCE % 85% Fanconi anemia complementation group E, FANCF % 100% Fanconi anemia complementation group F, FANCG % 99% Fanconi anemia complementation group G, FANCI % 99% Fanconi anemia complementation group I, FANCL % 100% Fanconi anemia complementation group L, FANCM % 99% Fanconi anemia complementation group M, FAT % 100% Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, FBLN % 91% Cutis laxa,autosomal dominant 2, Cutis laxa,autosomal recessive,type IA, Macular degeneration,age-related,3, FECH % 100% Protoporphyria erythropoietic autosomal recessive, FERMT % 98% Kindler syndrome, FGF % 100% Aplasia of lacrimal and salivary glands, LADD syndrome, FGF % 92% Hypophosphatemic rickets,autosomal dominant, Osteomalacia,tumor-induced Tumoral calcinosis,hyperphosphatemic,familial, FGF % 91% Deafness,congenital with inner ear agenesis,microtia and microdontia, FGF % 100% trichomegaly, FGF % 62% Hypogonadotropic hypogonadism 6 with or without anosmia, FGFR % 99% Hartsfield syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome, Trigonocephaly 1,190440

11 FGFR % 97% Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia syndrome, Craniofacial-skeletal-dermatologic dysplasia, Crouzon syndrome, Gastric cancer,somatic, Jackson-Weiss syndrome, LADD syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, Scaphocephaly, maxillary retrusion, and mental retardation, FGFR % 90% Achondroplasia, Bladder cancer,somatic, CATSHL syndrome, Cervical cancer,somatic, Colorectal cancer,somatic, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, LADD syndrome, Muenke syndrome, Nevus,epidermal, somatic, SADDAN, Spermatocytic seminoma,somatic, Thanatophoric dysplasia,type I, Thanatophoric dysplasia, type II, FH % 91% Fumarase deficiency, Leiomyomatosis and renal cell cancer, FKBP % 100% Bruck syndrome 1, Osteogenesis imperfecta type XI,610968

12 FKBP % 100% Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss, FLCN % 97% Birt-Hogg-Dube syndrome, Colorectal cancer,somatic, Pneumothorax,primary spontaneous, Renal carcinoma,chromphobe,somatic, FLG % 88% Ichthyosis vulgaris, {Dermatitis,atopic,susceptibility to,2}, FLG % 100% No OMIM phenotype FLT % 95% Hemangioma,capillary infantile,somatic, Lymphedema,hereditary,IA, FNIP % 98% Familial multiple discoid fibromas, FOXC % 89% Lymphedema-distichiasis syndrome with/without renal disease and diabetes mellitus, FOXE % 79% Bamforth-Lazarus syndrome, FOXN % 98% T-cell immunodeficiency congenital alopecia and nail dystrophy, FOXP % 98% Immunodysregulation,polyendocrinopathy and enteropathy,x-linked, {Diabetes mellitus,type I,susceptibility to}, FREM % 99% Bifid nose with or without anorectal and renal anomalies, Manitoba oculotrichoanal syndrome, Trigonocephaly 2, FUCA % 99% Fucosidosis, FZD % 100% Nail disorder,nonsyndromic,congenital 10 (claw-shaped nails), GALNS % 93% Mucopolysaccharidosis IVA, GALNT % 99% Tumoral calcinosis,hyperphosphatemic,familial, GAN % 98% Giant axonal neuropathy-1, GATA % 93% Emberger syndrome, Immunodeficiency 21, {Leukemia, acute myeloid, susceptibility to}, {Myelodysplastic syndrome, susceptibility to}, GDF % 100% Telangiectasia, hereditary hemorrhagic, type 5,615506

13 GDF % 100% Acromesomelic dysplasia,hunter-thompson type, Brachydactyly,type A1,C, Brachydactyly,type A2, Brachydactyly,type C, Chondrodysplasia,Grebe type, Du Pan syndrome, Multiple synostoses syndrome 2, Symphalangism,proximal, 1B, {Osteoarthritis 5}, GGCX % 98% Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiency of, 1, GJA % 78% Atrioventricular septal defect 3, Craniometaphyseal dysplasia, autosomal recessive, Erythrokeratodermia variabilis et progressiva, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Oculodentodigital dysplasia,autosomal recessive, Palmoplantar keratoderma with congenital alopecia, Syndactyly, type III, GJB % 100% Bart-Pumphrey syndrome, Deafness,autosomal dominant 3A, Deafness,autosomal recessive 1A, Hystrix-like ichtyosis-deafness syndrome, Keratitis-ichtyosis-deafness syndrome, Keratoderma,palmoplantar,with deafness, Vohwinkel syndrome, GJB % 100% Deafness autosomal dominant 2B, Deafness,digenic,GJB2/GJB3, Erythrokeratodermia variabilis et progressiva, GJB % 100% Erythrokeratodermia variabilis with erythema gyratum repens, GJB % 100% Deafness,autosomal dominant 3B, Deafness,autosomal recessive 1B, Deafness,digenic GJB2/GJB6, Ectodermal dysplasia 2,Clouston type,129500

14 GJC % 81% Leukodystrophy,hypomyelinating 2, Lymphedema, hereditary,ic, Spastic paraplegia 44,autosomal recessive, GLA % 99% Fabry disease, GLB % 96% GM1-gangliosidosis type I, GM1-gangliosidosis type II, GM1-gangliosidosis type III, Mucopolysaccharidosis type IVB (Morquio), GLMN % 99% Glomuvenous malformations, GMPPA % 100% Alacrima, achalasia, and mental retardation syndrome, GNAQ % 94% Capillary malformations,congenital,1, somatic,mosaic, Sturge-Weber syndrome, somatic, mosaic, GNAS % 96% Acromegaly, somatic, ACTH-independent macronodular adrenal hyperplasia, McCune-Albright syndrome,somatic,mosaic, Osseous heteroplasia,progressive, Pseudohypoparathyroidism Ia, Pseudohypoparathyroidism Ib, Pseudohypoparathyroidism Ic, Pseudopseudohypoparathyroidism, GORAB % 100% Geroderma osteodysplasticum, GPR % 81% Nystagmus 6,congenital,X-linked, Ocular albinism, type I, Nettleship-Falls type, GRHL % 100% Deafness,autosomal dominant 28, Ectodermal dysplasia/short stature syndrome, GRHL % 98% Van der Woude syndrome 2, GSN % 89% Amyloidosis Finnish type, GTF2H % 100% Trichothiodystrophy 3,photosensitive, HCCS % 99% Linear skin defects with multiple congenital anomalies, HDAC % 99% Cornelia de Lange syndrome 5, Wilson-Turner syndrome, HERC % 60% Mental retardation, autosomal recessive 38, [Skin/hair/eye pigmentation 1], HLCS % 100% Holocarboxylase synthetase deficiency,253270

15 HMBS % 98% Porphyria acute intermittent, HMGB % 63%?Microphthalmia, syndromic 13, HOXC % 98% Ectodermal dysplasia 9 hair/nail type, HPS % 94% Hermansky-Pudlak syndrome 1, HPS % 97% Hermansky-Pudlak syndrome 3, HPS % 98% Hermansky-Pudlak syndrome 4, HPS % 96% Hermansky-Pudlak syndrome 5, HPS % 81% Hermansky-Pudlak syndrome 6, HR % 93% Alopecia universalis, Atrichia with papular lesions, Hypotrichosis 4, HRAS % 100% Congenital myopathy with excess of muscle spindles, Costello syndrome, Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, {Bladder cancer, somatic}, {Nevus sebaceous or woolly hair nevus, somatic}, {Spitz nevus or nevus spilus, somatic}, {Thyroid carcinoma, follicular, somatic}, HTRA % 77% CARASIL syndrome, {Macular degeneration,age-related,7}, {Macular degeneration,age-related,neovascular type}, HYAL % 95% Mucopolysaccharidosis type IX, IDUA % 85% Mucopolysaccharidosis Ih, Mucopolysaccharidosis Ih/s, Mucopolysaccharidosis Is, IFT % 95% Cranioectodermal dysplasia 1, IFT % 100% Cranioectodermal dysplasia 3, IKBKG % 26% Ectodermal dysplasia,hypohidrotic with immune deficiency, Ectodermal dysplasia,anhydrotic,lymphedema and immunodeficiency, Immunodeficiency 33, Immunodeficiency,isolated, Incontinentia pigmenti, Invasive pneumococcal disease,recurrent isolated,2, IL17RA % 89%?Candidiasis,familial 5,autosomal recessive,613953

16 IL17RD % 96% Hypogonadotropic hypogonadism 18 with or without anosmia, IL1RN % 100% Interleukin 1 receptor antagonist deficiency, {Gastric cancer risk after H.pylori infection}, {Microvascular complications of diabetes 4}, IL31RA % 97% Amyloidosis,primary localized cutaneous 2, IL36RN % 100% Psoriasis 14, pustular, INSR % 96% Diabetes mellitus,insulin-resistant,with acanthosis nigricans, Hyperinsulinemic hypoglycemia,familial,5, Leprechaunism, Rabson-Mendenhall syndrome, IRF % 100% Multiple myeloma, [Skin/hair/eye pigmentation, variation in,8], IRF % 93% Orofacial cleft 6, Popliteal pterygium syndrome 1, van der Woude syndrome, ITGA % 92% Interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, congenital, ITGA % 99% Epidermolysis bullosa,junctional, with pyloric stenosis, ITGB % 93% Epidermolysis bullosa of hands and feet, Epidermolysis bullosa,junctional,non-herlitz type, Epidermolysis bullosa,junctional,with pyloric atresia, ITGB % 95% Amelogenesis imperfecta, type IH, JUP % 76% Arrhythmogenic right ventricular dysplasia 12, Naxos disease, KAL % 92% Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), KANK % 100% palmoplantar keratoderma and woolly hair, KAT6B % 99% Genitopatellar syndrome, SBBYSS syndrome, KCNH % 99% Temple-Baraitser syndrome, Zimmermann-Laband syndrome, KCNK % 100% Birk-Barel mental retardation dysmorphism syndrome, KIF % 98% Microcephaly with or without chorioretinopathy lymphedema or mental retardation,152950

17 KIT % 98% Gastrointestinal stromal tumor,familial, Germ cell tumors, Leukemia,acute myeloid, Mast cell disease, Piebaldism, KITLG % 98% Hyperpigmentation familial progressive 2, [Skin/hair/eye pigmentation 7], KLK % 100% Amelogenesis imperfecta type IIA1, KLLN % 100% Cowden syndrome 4, KMT2D % 98% Kabuki syndrome 1, KRAS % 89% Bladder cancer,somatic, Breast cancer,somatic, Cardiofaciocutaneous syndrome 2, Gastric cancer,somatic, Lung cancer,somatic, Noonan syndrome 3, Pancreatic carcinoma,somatic, SFM syndrome,somatic mosaic, KRT % 100% Epidermolytic hyperkeratosis, Ichthyosis histrix,curth-macklin type, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Keratosis palmoplantaris striata III, Palmoplantar keratoderma,epidermolytic, Palmoplantar keratoderma,nonepidermolytic, KRT % 85% Epidermolytic hyperkeratosis, Ichthyosis with confetti, Ichthyosis,cyclic,with epidermolytic hyperkeratosis, KRT % 100% White sponge nevus 2, KRT % 51% Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex,dowling-meara type, Epidermolysis bullosa simplex,koebner type, Epidermolysis bullosa simplex,recessive 1, Epidermolysis bullosa simplex,weber-cockayne type, Naegeli-Franceschetti-Jadassohn syndrome,161000

18 KRT % 10% Pachyonychia congenita 1, Palmoplantar keratoderma,nonepidermolytic,focal, KRT % 10% Pachyonychia congenita 2, Steatocystoma multiplex, KRT % 97% Ichthyosis bullosa of Siemens, KRT % 99% White sponge nevus 1, KRT % 95% Dowling-Degos disease 1, Epidermolysis bullosa simplex,dowling-meara type, Epidermolysis bullosa simplex,koebner type, Epidermolysis bullosa simplex,recessive 1, Epidermolysis bullosa simplex,weber-cockayne type, Epidermolysis bullosa simplex-mp, Epidermolysis bullosa simplex-mcr, KRT6A % 46% Pachyonychia congenita 3, KRT6B % 44% Pachyonychia congenita Jackson-Lawler type, KRT6C 26 51% 41% Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, KRT % 92% Hypotrichosis 13, KRT % 83%?Ectodermal dysplasia 7, hair/nail type,614929?hypotrichosis 3, Woolly hair, autosomal dominant, KRT % 98% {Pseudofolliculitis barbae,susceptibility to}, KRT % 43% Monilethrix, KRT % 48% Monilethrix, KRT % 64% Ectodermal dysplasia 4 hair/nail type, KRT % 56% Monilethrix, KRT % 93% Epidermolytic palmoplantar keratoderma, LAMA % 99% Epidermolysis bullosa,generalized atrophic benign, Epidermolysis bullosa,junctional,herlitz type, Laryngoonychocutaneous syndrome, LAMB % 96% Amelogenesis imperfecta,type IA, Epidermolysis bullosa,junctional,herlitz type, Epidermolysis bullosa,junctional,non-herlitz type, LAMC % 99% Epidermolysis bullosa,junctional,herlitz type, Epidermolysis bullosa,junctional,non-herlitz type,226650

19 LAMTOR % 100% Immunodeficiency due to defect in MAPBP-interacting protein, LDHA 51 70% 58% Glycogen storage disease XI, LDLRAP % 87% Hypercholesterolemia,familial,autosomal recessive, LEMD % 98% Buschke-Ollendorff syndrome, Melorheostosis with osteopoikilosis, Osteopoikilosis, LIPH % 100% Hypotrichosis 7, Woolly hair,autosomal recessive 2,with or without hypotrichosis LIPN % 100% Ichthyosis,congenital,autosomal recessive 8, LMBRD % 100% Methylmalonic aciduria and homocystinuria cblf type, LMNA % 90% Cardiomyopathy dilated 1A, Charcot-Marie-Tooth disease,type 2B1, Emery-Dreifuss muscular dystrophy 2, AD, Emery-Dreifuss muscular dystrophy 3,AR, Heart-hand syndrome,slovenian type, Hutchinson-Gilford progeria, Lipodystrophy,familial,partial,2, Malouf syndrome, Mandibuloacral dysplasia, Muscular dystrophy,congenital, Muscular dystrophy,limb-girdle,type 1B, Restrictive dermopathy,lethal, LMX1B % 96% Nail-patella syndrome, LONP % 91% CODAS syndrome, LOR % 78% Vohwinkel syndrome with ichthyosis, LPAR % 100% Hypotrichosis 8, Woolly hair,autosomal recessive 1,with or without hypotrichosis, LPIN % 98% Majeed syndrome, LTBP % 94% Dental anomalies and short stature, LTBP % 88% Cutis laxa autosomal recessive type IC, LYST % 97% Chediak-Higashi syndrome, LYZ % 100% Amyloidosis,renal, MAP2K % 91% Cardiofaciocutaneous syndrome 3, MAP2K % 92% Cardiofaciocutaneous syndrome 4,615280

20 MBTPS % 100%?Olmsted syndrome,x-linked, IFAP syndrome with or without BRESHECK syndrome, Keratosis follicularis spinulosa decalvans,x-linked, MED % 94% Lujan-Fryns syndrome, Ohdo syndrome,x-linked, Opitz-Kaveggia syndrome, MEFV % 96% Familial Mediterranean fever AD, Familial Mediterranean fever AR, MGP % 98% Keutel syndrome, MITF % 100% Tietz albinism-deafness syndrome, Waardenburg syndrome, type 2A, Waardenburg syndrome/ocular albinism, digenic, {Melanoma,cutaneous malignant,susceptibility to 8}, MLH % 98% Colorectal cancer,hereditary,nonpolyposis type 2, Mismatch repair cancer syndrome, Muir-Torre syndrome, MLPH 87 95% 88% Griscelli syndrome type 3, MMACHC % 100% Methylmalonic aciduria and homocystinuria cblc type, MMP % 99% Torg-Winchester syndrome, MMP % 100% Amelogenesis imperfecta type IIA2, MPLKIP % 100% Trichothiodystrophy nonphotosensitive 1, MRE11A % 99% Ataxia-telangiectasia-like disorder, MSH % 97% Colorectal cancer,hereditary,nonpolyposis type 1, Mismatch repair cancer syndrome, Muir-Torre syndrome, MSX % 78% Ectodermal dysplasia 3,Witkop type, Orofacial cleft 5, Tooth agenesis,selective,1,with or without orofacial cleft, MUTYH % 100% Adenomas,multiple colorectal, Colorectal denomatous polyposis,autosomal recessive,with pilomatricomas, Gastric cancer,somatic, MVK % 98% Hyper-IgD syndrome, Mevalonic aciduria, Porokeratosis 3,disseminated superficial actinic,175900

21 MYH % 90% Carney complex variant, Trismus-pseudocamptodactyly syndrome, MYO5A % 98% Griscelli syndrome type 1, NAA % 97% N-terminal acetyltransferase deficiency,300855?microphthalmia,syndromic 1, NAGA % 95% Kanzaki disease, Schindler disease, NBAS % 100% Short stature,optic nerve atrophy and Pelger-Huet anomaly, Infantile liver failure syndrome 2, NCSTN % 92% Acne inversa familial 1, NDUFB % 98% Linear skin defects with multiple congenital anomalies 3, NF % 81% Neurofibromatosis, type 1, NFKBIA % 100% Ectodermal dysplasia anhidrotic with T-cell immunodeficiency, NHP % 97% Dyskeratosis congenita, autosomal recessive 2, NIPAL % 95% Ichthyosis,congenital,autosomal recessive 6, NIPBL % 98% Cornelia de Lange syndrome 1, NLRP % 96%?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, {Vitiligo-associated multiple autoimmune disease susceptibility 1}, NLRP % 99% CINCA syndrome, Familial cold-induced inflammatory syndrome 1, Muckle-Wells syndrome, NME % 100% Neuroblastoma, NOD % 98% Blau syndrome, Sarcoidosis,early-onset, {Inflammatory bowel disease 1}, {Psoriatic arthritis,susceptibility to}, NOP % 100% Dyskeratosis congenita, autosomal recessive 1, NOTCH % 90% Aortic valve disease, Adams-Oliver syndrome 5,616028

22 NRAS % 100% Autoimmune lymphoproliferative syndrome type IV, Colorectal cancer,somatic, Epidermal nevus,somatic, Melanocytic nevus syndrome,congenital,somatic, Neurocutaneous melanosis,somatic, Noonan syndrome 6, Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, Thyroid carcinoma,follicular,somatic, NSD % 99% Beckwith-Wiedemann syndrome, Leukemia,acute myeloid, Sotos syndrome, NSDHL % 98% CHILD syndrome, CK syndrome, OCA % 99% Albinism brown oculocutaneous, [Skin/hair/eye pigmentation 1], ODAM % 100% No OMIM phenotype OFD % 91%?Retinitis pigmentosa 23, Joubert syndrome 10, Orofaciodigital syndrome 1, Simpson-Golabi-Behmel syndrome, type 2, OSMR % 100% Amyloidosis primary localized cutaneous 1, PAH % 95% Phenylketonuria, PALB % 99% Fanconi anemia complementation group N, {Breast cancer,susceptibility to}, {Pancreatic cancer,susceptibility to 3}, PAX % 99% Craniofacial-deafness-hand syndrome, Rhabdomyosarcoma 2,alveolar, Waardenburg syndrome,type 1, Waardenburg syndrome,type 3, PAX % 99% Tooth agenesis selective 3, PCNA % 100% Ataxia-telangiectasia-like disorder 2, PDGFB % 100% Dermatofibrosarcoma protuberans, Basal ganglia calcification,idiopathic,5, Meningioma, SIS-related,607174

23 PDGFRB % 97% Basal ganglia calcification idiopathic 4, Myeloproliferative disorder with eosinophilia, Myofibromatosis, infantile, 1, PEPD % 92% Prolidase deficiency, PEX % 81% Peroxisome biogenesis disorder 9B, Chondrodysplasia punctata, rhizomelic, type 1, PHEX % 98% Hypophosphatemic rickets X-linked dominant, PHGDH % 99% Phosphoglycerate dehydrogenase deficiency, Neu-Laxova syndrome 1, PHYH % 100% Refsum disease, PIEZO % 94% Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, PIGA % 99% Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria,somatic, PIGN % 100% Multiple congenital anomalies-hypotonia-seizures syndrome 1, PIGV % 100% Hyperphosphatasia with mental retardation syndrome 1, PIK3CA % 92% Breast cancer somatic, CLOVE syndrome, somatic, Colorectal cancer,somatic, Cowden syndrome 5, Gastric cancer,somatic, Hepatocellular carcinoma,somatic, Keratosis,seborrheic,somatic, Megalencephaly-capillar malformation-polymicrogyria syndrome, somatic, Nevus,epidermal,somatic, Nonsmall cell lung cancer,somatic, Ovarian cancer,somatic, PITX % 93% Axenfeld-Rieger syndrome type 1, Iridogoniodysgenesis,type 2, Peters anomaly, Ring dermoid of cornea, PKP % 90% Ectodermal dysplasia/skin fragility syndrome,604536

24 PLCD % 93% Nail disorder nonsyndromic congenital 3 (leukonychia), PLCG % 99% Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Familial cold autoinflammatory syndrome 3, PLEC % 96%?Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simples with muscular dystrophy, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Muscular dystrophy,limb-girdle,type 2Q, PLG % 72% Dysplasminogenemia, PLIN % 75% Lipodystrophy familial partial type 4, PLOD % 97% Ehlers-Danlos syndrome type VI, PMS % 56% Colorectal cancer hereditary nonpolyposis type 4, Mismatch repair cancer syndrome, PNPLA % 99% Ichthyosis congenital autosomal recessive 10, PNPLA % 96% Neutral lipid storage disease with myopathy, POC1A % 95% Short stature onychodysplasia facial dysmorphism and hypotrichosis, POFUT % 96% Dowling-Degos disease 2, POGLUT % 97% Dowling-Degos disease 4, POLD % 92% Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, {Colorectal cancer,susceptibility to,10}, POLH % 96% Xeroderma pigmentosum variant type, POLR1C % 87% Treacher Collins syndrome 3, Leukodystrophy, hypomyelinating,11, POLR1D % 100% Treacher Collins syndrome 2, POLR3A % 94% Leukodystrophy hypomyelinating 7 with or without oligodontia and/or hypogonadotropic hypogonadism, POLR3B % 99% Leukodystrophy hypomyelinating 8 with or without oligodontia and/or hypogonadotropic hypogonadism, POMC % 66% Obesity adrenal insufficiency and red hair due to POMC deficiency, {Obesity,early-onset,susceptibility to}, POMP % 100% Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, PORCN % 92% Focal dermal hypoplasia, PPOX % 97% Porphyria variegata, PQBP % 99% Renpenning syndrome,309500

25 PRKAR1A % 91% Acrodysostosis 1 with or without hormone resistance, Carney complex,type 1, Myxoma,intracardiac, Pigmented nodular adrenocortical disease,primary,1, PSEN % 96% Acne inversa familial 3, Alzheimer disease,type 3, Cardiomyopathy,dilated,1U, Dementia,frontotemporal, Pick disease, PSENEN % 99% Acne inversa familial 2, PSMB % 10% Autoinflammation lipodystrophy and dermatosis syndrome, PSTPIP % 91% Pyogenic sterile arthritis pyoderma gangrenosum and acne, PTCH % 94% Basal cell carcinoma somatic, Basal cell nevus syndrome, Holoprosencephaly-7, PTCH % 96% Basal cell carcinoma somatic, Basal cell nevus syndrome, Medulloblastoma, PTDSS % 100% Lenz-Majewski hyperostotic dwarfism, PTEN % 94% Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome 1, Endometrial carcinoma,somatic, Macrocephaly/autism syndrome, Malignant melanoma,somatic, Squamous cell carcinoma,head and neck,somatic, Thyroid carcinoma,follicular,somatic, VATER association with macrocephaly and ventriculomegaly, {Glioma susceptibility 2}, {Meningioma}, {Prostate cancer,somatic}, PTHLH % 100% Brachydactyly type E2, Humoral hypercalcemia of malignancy

26 PTPN % 72% LEOPARD syndrome 1, Leukemia,juvenile myelomonocytic, Metachondromatosis, Noonan syndrome 1, PTPN % 98% Choanal atresia and lymphedema, PTPRF % 99% Breasts and/or nipples, aplasia or hypoplasia of, 2, PTRF % 100% Lipodystrophy congenital generalized type 4, PVRL % 98% Cleft lip/palate-ectodermal dysplasia syndrome, Orofacial cleft 7, PVRL % 99% Ectodermal dysplasia-syndactyly syndrome 1, PYCR % 99% Cutis laxa autosomal recessive type IIB, Cutis laxa autosomal recessive type IIIB, RAB % 100% Carpenter syndrome, RAB27A % 100% Griscelli syndrome type 2, RAD % 96% Cornelia de Lange syndrome 4, RAD % 100% Nijmegen breakage syndrome-like disorder, RAF % 100% LEOPARD syndrome 2, Cardiomyopathy,dilated,1NN, Noonan syndrome 5, RAG % 100% Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity, Combined cellular and humoral immune defects with granulomas, Omenn syndrome, Severe combined immunodeficiency, B cell-negative, RAG % 100% Combined cellular and humoral immune defects with granulomas, Omenn syndrome, Severe combined immunodeficiency,b cell-negative, RAI % 98% Smith-Magenis syndrome, RBBP % 100% Jawad syndrome, Pancreatic carcinoma,somatic Seckel syndrome 2, RBM % 99% Alopecia neurologic defects and endocrinopathy syndrome, RBP % 85% Retinol dystrophy iris coloboma and comedogenic acne syndrome, Microphthalmia,isolated,with coloboma 10,616428

27 RBPJ 78 98% 95% Adams-Oliver syndrome 3, RECQL % 95% Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome, RHBDF % 92% Tylosis with esophageal cancer, RIN % 97% Macrocephaly alopecia cutis laxa and scoliosis, RIPK % 96% Popliteal pterygium syndrome 2 lethal type, RNASEH2A % 92% Aicardi-Goutieres syndrome 4, RNASEH2B % 93% Aicardi-Goutieres syndrome 2, RNASEH2C % 100% Aicardi-Goutieres syndrome 3, ROGDI % 95% Kohlschutter-Tonz syndrome, RPL % 84% Hypotrichosis 12, RSPO % 87% Palmoplantar hyperkeratosis and true hermaphroditism, Palmoplantar hyperkeratosis with squamous cell skin carcinoma and sex revearsal, RSPO % 100% Anonychia congenita, RTEL % 90% Dyskeratosis congenita,autosomal recessive 5, Dyskeratosis congenita,autosomal dominant 4, Pulmonary fibrosis and/or bone marrow failure,telomere-related, RUNX % 74% Cleidocranial dysplasia, Cleidocranial dysplasia, forme fruste,dental anomalies only, Cleidocranial dysplasia, forme fruste,with brachydactyly, Metaphyseal dysplasia with maxillary hypoplasia with/without brachydactyly, SAMD % 100% Tumoral calcinosis familial normophosphatemic, SAMHD % 98% Aicardi-Goutieres syndrome 5, Chilblain lupus 2, SART % 98% No OMIM phenotype SAT % 100% Keratosis follicularis spinulosa decalvans, SATB % 97% Cleft palate and mental retardation, SCN10A % 98% Epilepsy generalized with febrile seizures plus type 7, SCN11A % 99% Episodic pain syndrome,familial,3, Neuropathy,hereditary sensory and autonomic, type VII,615548

28 SCN9A % 100% Epilepsy generalized with febrile seizures plus type 7, Erythermalgia,primary, Febrile seizures,familial,3b, HSAN2D,autosomal recessive, Insensitivity to pain,congenital, Paroxysmal extreme pain disorder, Small fiber neuropathy, {Dravet syndrome,modifier of}, SEC23B % 100% Anemia dyserythropoietic congenital type II, SERPINB % 100% Palmoplantar keratoderma, Nagashima type, , SERPINH % 100% Osteogenesis imperfecta type X, {Preterm premature rupture of the membranes, susceptibility to}, SHOC % 97% Noonan-like syndrome with loose anagen hair, SKI % 77% Shprintzen-Goldberg syndrome, SKIV2L % 48% Trichohepatoenteric syndrome 2, SLC17A % 92% Porokeratosis, disseminated superficial actinic, 8, SLC24A % 96% Ameliogenesis imperfecta, hypomaturation type, IIA5, [Skin/hair/eye pigmentation 6], SLC24A % 99% Albinism, oculocutaneous, type VI, [skin/hair/eye pigmentation 4], SLC26A % 100% Achondrogenesis Ib, Atelosteogenesis II, De la Chapelle dysplasia, Diastrophic dysplasia, Diastrophic dysplasia,broad bone-platyspondylic variant, Epiphyseal dysplasia,multiple,4, SLC27A % 83% Ichthyosis prematurity syndrome, SLC29A % 99% Histiocytosis-lymphadenopathy plus syndrome, SLC2A % 98% Arterial tortuosity syndrome, SLC39A % 98% Spondylocheirodysplasia Ehlers-Danlos syndrome-like, SLC39A % 98% Acrodermatitis enteropathica, SLC45A % 99% Oculocutaneous albinism type IV, [skin/hair/eye pigmentation 5], SLC4A % 100% Renal tubular acidosis proximal with ocular abnormalities,604278

29 SLC6A % 95% Hartnup disorder, Hyperglycinuria, Iminoglycinuria,digenic, SLC7A % 99% Lysinuric protein intolerance, SLCO2A % 96% Hypertrophic osteoarthropathy primary autosomal recessive 2, SLURP % 87% Meleda disease, SLX % 95% Fanconi anemia complementation group P, SMAD % 85% Loeys-Dietz syndrome type 3, SMARCA % 92% Nicolaides-Baraitser syndrome, SMARCA % 94% Mental retardation autosomal dominant 16, {Rhabdoid tumor predisposition syndrome 2}, SMARCAD % 100% Adermatoglyphia, SMARCAL % 97% Schimke immunoosseous dysplasia, SMARCB % 100% Mental retardation autosomal dominant 15, Rhabdoid tumors, somatic, {Schwannomatosis-1,susceptibility to}, SMO % 96% Basal cell carcinoma, somatic SMOC % 90% Dentin dysplasia type I with microdontia and misshapen teeth, SNAI % 100% Piebaldism, Waardenburg syndrome, type 2D, SNAP % 100% Cerebral dysgenesis neuropathy, ichtyosis, and palmoplantar keratoderma syndrome, SNRPE % 79% Hypotrichosis 11, SNX % 100% Osteopetrosis autosomal recessive 8, SOS % 99% Fibromatosis,gingival, Noonan syndrome 4, SOX % 100% PCWH syndrome, Waardenburg syndrome,type 2E,with/without neurological involvement, Waardenburg syndrome,type 4C, SOX % 38% Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, SOX % 99% Microphthalmia syndromic 3, Optic nerve hypoplasia and abnormalities of the central nervous system, SP % 100% Osteogenesis imperfecta type XII,613849

30 SPINK % 99% Atopy, Netherton syndrome, SPINT % 60% Diarrhea 3 secretory sodium congenital syndromic, SPRED % 100% Legius syndrome, SPRY % 100% Hypogonadotropic hypogonadism 17 with or without anosmia, SRD5A % 97% Congenital disorder of glycosylation type Iq, Kahrizi syndrome, ST % 92% Ichthyosis with hypotrichosis, ST3GAL % 92% Ganglioside GM3 synthase deficiency, STAMBP % 99% Microcephaly-capillary malformation syndrome, STAT % 98% Hyper-IgE recurrent infection syndrome, Autoimmune disease,multisystem,infantile-onset, STAT5B % 74% Growth hormone insensitivity with immunodeficiency, Leukemia,acute promyelocytic,stat5b/rara type STIM % 94% Immune dysfunction with T-cell inactivation due to calcium entry defect 2, Myopathy,tubular aggregate,1, Stormorken syndrome, STK % 96% Melanoma malignant, somatic Pancreatic cancer, Peutz-Jeghers syndrome, Testicular tumor, somatic, STS % 100% Ichthyosis X-linked, SUFU % 91% Medulloblastoma desmoplastic, Basal cell nevus syndrome, {Meningioma,familial,susceptibility to}, SUMF % 95% Multiple sulfatase deficiency, TALDO % 100% Transaldolase deficiency, TAT % 100% Tyrosinemia type II, TBC1D % 99% Epileptic encephalopathy early infantile 16, Deafness, autosomal recessive 86, Deafness, autosomal dominant 65, DOOR syndrome, Myoclonic epilepsy,infantile,familial, TBX % 91% Ulnar-mammary syndrome,181450

31 TCIRG % 81% Osteopetrosis autosomal recessive 1, TEK % 99% Venous malformations multiple cutaneous and mucosal, TERT % 99% {Dyskeratosis congenita, autosomal recessive 4}, {Dyskeratosis congenita, autosomal dominant 2}, {Leukemia, acute myeloid}, {Melanoma, cutaneous malignant, 9}, {Pulmonary fibrosis and/or bone marrow failure, telomere related, 1}, TFAP2A % 87% Branchiooculofacial syndrome, TGFB % 97% Loeys-Dietz syndrome type 4, TGFBR % 93% Loeys-Dietz syndrome type 1A, {Multiple self-healing squamous epithelioma,susceptibility to}, TGFBR % 99% Colorectal cancer,hereditary,nonpolyposis type 6, Esophageal cancer,somatic, Loeys-Dietz syndrome,type 2, TGM % 98% Ichthyosis congenital autosomal recessive 1, TGM % 100% Peeling skin syndrome acral type, TINF % 100% Dyskeratosis congenita autosomal dominant 3, Revesz syndrome, TMC % 95% Epidermodysplasia verruciformis, TMC % 93% Epidermodysplasia verruciformis, TMEM % 100% Congenital disorder of glycosylation type IIk, TMEM % 96% STING-associated vasculopathy, infantile-onsent (SAVI), TNFRSF11A % 91% Osteolysis,familial expansile, Osteopetrosis,autosomal recessive 7, {Paget disease of bone 2,early-onset}, TNFRSF11B % 100% Paget disease of bone 5, juvenile-onset, TNFRSF1A % 88% Periodic fever,familial, {Multiple sclerosis, susceptibility to,5}, TNFSF % 100% Osteopetrosis,autosomal recessive 2, TNXB % 21% Ehlers-Danlos syndrome,autosomal dominant,hypermobility type, Vesicoureteral reflux 8,615963

32 TP % 100% ADULT syndrome, Ectrodactyly,ectodermal dysplasia,cleft lip/palate syndrome 3, Hay-Wells syndrome, Limb-mammary syndrome, Orofacial cleft 8, Rapp-Hodgkin syndrome, Split-hand/foot malformation 4, TPCN % 97% Skin/hair/eye pigmentation, variation in, 10, TREX % 100% Aicardi-Goutieres syndrome 1,dominant and recessive, Chilblain lupus, Vasculopathy,retinal,with cerebral leukodystrophy, {Systemic lupus erythematosus,susceptibility to}, TRIM % 100%?Bardet-Biedl syndrome 11, Muscular dystrophy,limb-girdle,type 2H, TRIM % 97% Mulibrey nanism, TRPV % 94%?Palmoplantar keratoderma,nonepidermolytic,focal 2, Olmsted syndrome, TSC % 97% Focal cortical dysplasia,taylor balloon cell type, Lymphangioleiomyomatosis, Tuberous sclerosis-1, TSC % 96% Lymphangioleiomyomatosis,somatic, Tuberous sclerosis-2, TTC % 100% Trichohepatoenteric syndrome 1, TTI % 100% Mental retardation, autosomal recessive 39, TWIST % 91% Ablepharon-macrostomia syndrome, Barber-Say syndrome, Focal facial dermal dysplasia 3,Setleis type, TYR % 74% Albinism,oculocutaneous,type IA, Albinism,oculocutaneous,type IB, Waardenburg syndrome/albinism,digenic, [Skin/hair/eye pigmentation 3], TYRP % 99% Albinism oculocutaneous type III, [Skin/hair/eye pigmentation,variation in,11(melanesian blond hair), UBE2A % 100% Mental retardation,x-linked syndromic,nascimento-type,300860

33 UBR % 100% Johanson-Blizzard syndrome, UROD % 93% Porphyria,cutanea tarda, Porphyria,hepatoerythropoietic, UROS % 91% Porphyria,congenital erythropoietic, USB % 84% Poikiloderma with neutropenia, UVSSA % 95% UV-sensitive syndrome 3, VDR % 100% Rickets,vitamin D-resistant,type IIA,277440?Osteoporosis,involutional, VEGFC % 97% Lymphedema, hereditary, ID, VHL % 100% Erythrocytosis,familial,2, Hemangioblastoma,cerebellar,somatic Pheochromocytoma, Renal cell carcinoma,somatic, von Hippel-Lindau syndrome, VPS13B % 98% Cohen syndrome, WAS % 94% Neutropenia,severe congenital,x-linked, Thrombocytopenia,X-linked, Wiskott-Aldrich syndrome, WDR % 100%?Cranioectodermal dysplasia 4,614378?Short-rib thoracic dysplasia 5 with/without polydactyly, Nephronophthisis 13, Senior-Loken syndrome 8, WDR % 99% Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with/without polydactyly, WDR % 100% Amelogenesis imperfecta hypomaturation type IIA3, WIPF % 95% Wiskott-Aldrich syndrome 2, WNT10A % 81% Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis,selective,4, WNT10B % 95% Split-hand/foot malformation 6, WNT5A % 99% Robinow syndrome autosomal dominant, WNT7A % 100% Fuhrmann syndrome, Ulna and fibula,absence of,with severe limb deficiency, WRAP % 99% Dyskeratosis congenita autosomal recessive 3,613988

34 WRN % 99% Werner syndrome, XPA % 96% Xeroderma pigmentosum group A, XPC % 97% Xeroderma pigmentosum group C, XYLT % 85% Desbuquois dysplasia 2, {Pseudoxanthoma elasticum,modifier of severity of}, XYLT % 90% Spondyloocular syndrome, {Pseudoxanthoma elasticum,modifier of severity of}, ZBTB % 100% Primrose syndrome, ZMPSTE % 100% Mandibuloacral dysplasia with type B lipodystrophy, Restrictive dermopathy,lethal, ZNF % 99% Brittle cornea syndrome 1, ZNF % 91% Spinocerebellar ataxia,autosomal recessive 5, ZNF % 99% Seborrhea-like dermatitis with psoriasiform elements, Gene symbols used follow HGCN guidelines Genomics 79(4): (2002) updated February 2014 Median Coverage describes the average number of reads seen across 50 exomes % Covered 10x describes the percentage of a gene s coding sequence that is covered at least 10x % Covered 20x describes the percentage of a gene s coding sequence that is covered at least 20x OMIM release used for OMIM disease identifiers and descriptions : June 30 th, 2015 Ad 1. No OMIM phenotype signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors