CRANIOFACIAL ANOMALIES GENE PANEL DGD141114

Size: px

Start display at page:

Download "CRANIOFACIAL ANOMALIES GENE PANEL DGD141114"

Cordelia Stephens
7 years ago
Views:

1 CRANIOFACIAL ANOMALIES GENE PANEL DGD Gene Median % covered % covered Associated Phenotype description and OMIM ID coverage > 10x > 20x ALX % 100% Frontonasal dysplasia 3, ALX % 83% Frontonasal dysplasia 1, ALX % 99% Parietal foramina 2, Frontonasal dysplasia 2, AMELX % 100% Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E, ANKRD % 89% KBG syndrome, AXIN % 95% Oligodontia-colorectal cancer syndrome, Colorectal cancer, somatic, BCOR % 98% Microphthalmia, syndromic 2, BMP % 100% Microphthalmia, syndromic 6, Orofacial cleft 11, C4orf % 100% Amelogenesis imperfecta, hypomaturation type, IIA4, CDON % 99% Holoprosencephaly 11, COL11A % 98% Stickler syndrome, type II, Marshall syndrome, {Lumbar disc herniation, susceptibility to}, Fibrochondrogenesis, COL11A % 25% Stickler syndrome, type III, Otospondylomegaepiphyseal dysplasia, Weissenbacher-Zweymuller syndrome, Deafness, autosomal dominant 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2,

2 COL2A % 97% Stickler syndrome, type I, Kniest dysplasia, Achondrogenesis, type II or hypochondrogenesis, SED congenita, SMED Strudwick type, Epiphyseal dysplasia, multiple, with myopia and deafness, Spondyloperipheral dysplasia, SED, Namaqualand type Osteoarthritis with mild chondrodysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type, Otospondylomegaepiphyseal dysplasia, Avascular necrosis of the femoral head, Legg-Calve-Perthes disease, Stickler sydrome, type I, nonsyndromic ocular, Czech dysplasia, COL9A % 97% Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type IV, COL9A % 93% Epiphyseal dysplasia, multiple, 2, {Intervertebral disc disease, susceptibility to}, Stickler syndrome, type V, CTSK % 100% Pycnodysostosis, DISP % 100% Craniofacial and neuro-developmental abnormalities (Roessler (2009) Hum Genet 125,393) Diaphragmatic hernia, congenital (Kantarci (2010) Am J Med Genet A 152A,2493) Tetralogy of Fallot (Silversides (2012) PLoS Genet 8, e ) DLX % 95% Trichodontoosseous syndrome, Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, DSPP % 97% Dentinogenesis imperfecta, Shields type II, Deafness, autosomal dominant 36, with dentinogenesis, Dentinogenesis imperfecta, Shields type III, Dentin dysplasia, type II, EDA % 94% Ectodermal dysplasia 1, hypohidrotic, X-linked, Tooth agenesis, selective, X-linked 1,

3 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 % 100% Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, EFNB % 96%?Craniofrontonasal dysplasia, EFTUD % 99% Mandibulofacial dysostosis, Guion-Almeida type, ENAM % 100% Amelogenesis imperfecta, type IB, Amelogenesis imperfecta, type IC, ERF % 99% Craniosynostosis 4, FAM83H % 98% Amelogenesis imperfecta, type 3, FGD % 92% Aarskog-Scott syndrome, Mental retardation, X-linked syndromic 16, FGFR % 97% Pfeiffer syndrome, Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia, Trigonocephaly 1, Hartsfield syndrome, FGFR % 100% Crouzon syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Apert syndrome, Saethre-Chotzen syndrome, Craniosynostosis, nonspecific Gastric cancer, somatic, Craniofacial-skeletal-dermatologic dysplasia, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Scaphocephaly and Axenfeld-Rieger anomaly LADD syndrome, Scaphocephaly, maxillary retrusion, and mental retardation, Bent bone dysplasia syndrome,

4 FGFR % 90% Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, type I, Crouzon syndrome with acanthosis nigricans, Muenke syndrome, Bladder cancer, somatic, Colorectal cancer, somatic, Cervical cancer, somatic, LADD syndrome, CATSHL syndrome, Nevus, epidermal, somatic, Thanatophoric dysplasia, type II, Spermatocytic seminoma, somatic, FOXC % 98% Iridogoniodysgenesis, type 1, Rieger or Axenfeld anomalies, Axenfeld-Rieger syndrome, type 3, Iris hypoplasia and glaucoma, FOXE % 97% Bamforth-Lazarus syndrome, GLI % 96% Holoprosencephaly-9, GRHL % 97% Van der Woude syndrome 2, IKBKG % 16% Incontinentia pigmenti, type II, Ectodermal dysplasia, hypohidrotic, with immune deficiency, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, isolated, {Atypical mycobacteriosis, familial}, Invasive pneumococcal disease, recurrent isolated, 2, IL11RA % 99% Craniosynostosis and dental anomalies, IRF % 96% van der Woude syndrome, Popliteal pterygium syndrome 1, Orofacial cleft 6, KAT6B % 100% SBBYSS syndrome, Genitopatellar syndrome, KLK % 100% Amelogenesis imperfecta, type IIA1, KMT2D % 98% Kabuki syndrome 1, LTBP % 99% Tooth agenesis, selective, 6,

5 MAFB % 100% Multicentric carpotarsal osteolysis syndrome, MED % 90% Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, X-linked, MID % 95% Opitz GBBB syndrome, type I, MMP % 97% Amelogenesis imperfecta, type IIA2, MSX % 85% Tooth agenesis, selective, 1, with or without orofacial cleft, Orofacial cleft 5, Ectodermal dysplasia 3, Witkop type, MSX % 77% Craniosynostosis, type 2, Parietal foramina 1, Parietal foramina with cleidocranial dysplasia, NIPBL % 98% Cornelia de Lange syndrome 1, NOG % 100% Symphalangism, proximal, Multiple synostosis syndrome 1, Tarsal-carpal coalition syndrome, Stapes ankylosis with broad thumb and toes, Brachydactyly, type B2, NSD % 99% Sotos syndrome 1, Leukemia, acute myeloid, (1) Beckwith-Wiedemann syndrome, OFD % 79%?Retinitis pigmentosa 23, Joubert syndrome 10, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome, type 2, PAX % 99%?Morning glory disc anomaly, Aniridia, Cataract with late-onset corneal dystrohpy, Coloboma of optic nerve, Coloboma, ocular, Foveal hypoplasia 1, Gillespie syndrome, Keratitis, Optic nerve hypoplasia, Peters anomaly, PAX % 97% Rhabdomyosarcoma 2, alveolar,

6 PAX % 99% Tooth agenesis, selective, 3, PITX % 100% Axenfeld-Rieger syndrome, type 1, PLCB % 99% Auriculocondylar syndrome 2, POLR1C % 99% Treacher Collins syndrome 3, POLR1D % 100% Treacher Collins syndrome 2, PTCH % 98% Basal cell nevus syndrome, Basal cell carcinoma, somatic, Holoprosencephaly-7, PTH1R % 97% Chondrodysplasia, Blomstrand type, Eiken syndrome, Failure of tooth eruption, primary, Metaphyseal chondrodysplasia, Murk Jansen type, PVRL % 98% Cleft lip/palate-ectodermal dysplasia syndrome, Orofacial cleft 7, RPS6KA % 92% Coffin-Lowry syndrome, Mental retardation, X-linked 19, RUNX % 100% Cleidocranial dysplasia, Cleidocranial dysplasia, forme fruste, with brachydactyly, Cleidocranial dysplasia, forme fruste, dental anomalies only, Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, SATB % 99% Cleft palate and mental retardation, SH3BP % 96% Cherubism, SHH % 96% Holoprosencephaly-3, Single median maxillary central incisor, Microphthalmia with coloboma 5, Schizencephaly, SIX % 100% Holoprosencephaly-2, Schizensephaly, SMOC % 96% Dentin dysplasia, type I, with microdontia and misshapen teeth, SPECC1L % 99% Facial clefting, oblique, 1, SUMO % 63% Orofacial cleft 10, TBX % 96% Cleft palate with ankyloglossia, ?Abruzzo-Erickson syndrome, TCF % 100% Craniosynostosis 3, TCOF % 99% Treacher Collins syndrome 1,

7 TGFBR % 93% Loeys-Dietz syndrome, type 1A, Loeys-Dietz syndrome, type 2A, {Multiple self-healing squamous epithelioma, susceptiblity to}, TGFBR % 99% Colorectal cancer, hereditary nonpolyposis, type 6, TGIF % 100% Holoprosencephaly-4, TP % 100% Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Split-hand/foot malformation 4, Hay-Wells syndrome, ADULT syndrome, Limb-mammary syndrome, Rapp-Hodgkin syndrome, Orofacial cleft 8, TWIST % 99% Saethre-Chotzen syndrome, Saethre-Chotzen syndrome with eyelid anomalies, Craniosynostosis, type 1, Robinow-Sorauf syndrome, UBB % 51% Cleft palate, isolated, (2) VAX % 99% Microphthalmia, syndromic 11, WDR % 100% Amelogenesis imperfecta, hypomaturation type, IIA3, WNT10A % 94% Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective, 4, ZEB % 100% Mowat-Wilson syndrome, ZIC % 89% Holoprosencephaly-5, 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 : 31 october 2014 Ad 1. No OMIM phenotype signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors

Anatomic Anomalies. Anomalies. Anomalies. Anomalies. Supernumerary Teeth. Supernumerary Teeth. Steven R. Singer, DDS 212.305.5674 srs2@columbia.

Anatomic Anomalies. Anomalies. Anomalies. Anomalies. Supernumerary Teeth. Supernumerary Teeth. Steven R. Singer, DDS 212.305.5674 srs2@columbia. Anatomic Anomalies Steven R. Singer, DDS 212.305.5674 srs2@columbia.edu Anomalies! Anomalies are variations in the:! Size! Morphology! Number! Eruption of the teeth Anomalies Anomalies There are two categories:!