cataract panel 16-Apr-2018 (63 genen) Centrum voor Medische Genetica Gent versie OMIM gene ID

Transcription

1 versie 16-Apr-2018 (63 genen) cataract panel Centrum voor Medische Genetica Gent Gene OMIM gene ID AGK ALDH18A Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern Cataract 38, autosomal recessive, (3), Autosomal recessive; Sengers syndrome, (3), Autosomal recessive Cutis laxa, autosomal 3, (3), Autosomal ; Cutis laxa, autosomal recessive, type IIIA, (3), Autosomal recessive, Isolated cases; Spastic paraplegia 9A, autosomal, (3), Autosomal ; Spastic paraplegia 9B, autosomal recessive, (3), Autosomal recessive BCOR Microphthalmia, syndromic 2, (3), X-linked BEST Bestrophinopathy, autosomal recessive, (3); Macular dystrophy, vitelliform, 2, (3), Autosomal ; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, (3), Autosomal ; Retinitis pigmentosa, concentric, (3); Retinitis pigmentosa-50, (3); Vitreoretinochoroidopathy, (3), Autosomal BFSP Cataract 33, multiple types, (3), Autosomal recessive, Autosomal BFSP Cataract 12, multiple types, (3), Autosomal CHMP4B Cataract 31, multiple types, (3), Autosomal COL18A Knobloch syndrome, type 1, (3), Autosomal recessive COL2A Achondrogenesis, type II or hypochondrogenesis, (3), Autosomal ; Avascular necrosis of the femoral head, (3), Autosomal ; Czech dysplasia, (3), Autosomal ; Epiphyseal dysplasia, multiple, with myopia and deafness, (3), Autosomal ; Kniest dysplasia, (3), Autosomal ; Legg-Calve- Perthes disease, (3), Autosomal ; Osteoarthritis with mild chondrodysplasia, (3), Autosomal ; Platyspondylic skeletal dysplasia, Torrance type, (3), Autosomal ; SED congenita, (3), Autosomal ; SMED Strudwick type, (3), Autosomal ; Spondyloepiphyseal dysplasia, Stanescu type, (3), Autosomal ; Spondyloperipheral dysplasia, (3), Autosomal ; Stickler sydrome, type I, nonsyndromic ocular, (3), Autosomal ; Stickler syndrome, type I, (3), Autosomal ; Vitreoretinopathy with phalangeal epiphyseal dysplasia (3) 1/5

2 CRYAA Cataract 9, multiple types, (3), Autosomal CRYAB Cardiomyopathy, dilated, 1II, (3), Autosomal ; Cataract 16, multiple types, (3), Autosomal recessive, Autosomal ; Myopathy, myofibrillar, 2, (3), Autosomal ; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related, (3), Autosomal recessive CRYBA Cataract 10, multiple types, (3), Autosomal CRYBA ?Cataract 42, (3), Autosomal CRYBA Cataract 23, (3) CRYBB Cataract 17, multiple types, (3), Autosomal recessive, Autosomal CRYBB Cataract 3, multiple types, (3), Autosomal CRYBB Cataract 22, (3), Autosomal recessive, Autosomal CRYGB Cataract 39, multiple types, autosomal, (3), Autosomal CRYGC Cataract 2, multiple types, (3), Autosomal CRYGD Cataract 4, multiple types, (3), Autosomal CRYGS Cataract 20, multiple types, (3), Autosomal CTDP Congenital cataracts, facial dysmorphism, and neuropathy, (3), Autosomal recessive CYP27A Cerebrotendinous xanthomatosis, (3), Autosomal recessive EPHA Cataract 6, multiple types, (3), Autosomal ERCC ERCC EYA Cerebrooculofacioskeletal syndrome 1, (3), Autosomal recessive; Cockayne syndrome, type B, (3), Autosomal recessive; De Sanctis- Cacchione syndrome, (3), Autosomal recessive; {Lung cancer, susceptibility to}, (3), Autosomal recessive; {Macular degeneration, age-related, susceptibility to, 5}, (3); Premature ovarian failure 11, (3), Autosomal ; UV-sensitive syndrome 1, (3), Autosomal recessive Cockayne syndrome, type A, (3), Autosomal recessive; UVsensitive syndrome 2, (3), Autosomal recessive Anterior segment anomalies with or without cataract, (3), Autosomal ; Branchiootic syndrome 1, (3), Autosomal ; Branchiootorenal syndrome 1, with or without cataracts, (3), Autosomal ;?Otofaciocervical syndrome, (3), Autosomal FAM126A Leukodystrophy, hypomyelinating, 5, (3), Autosomal recessive FOXC Anterior segment dysgenesis 3, multiple subtypes, (3), Autosomal ; Axenfeld-Rieger syndrome, type 3, (3), Autosomal 2/5

3 FOXE FTL Anterior segment dysgenesis 2, multiple subtypes, (3), Autosomal recessive; {Aortic aneurysm, familial thoracic 11, susceptibility to}, (3), Autosomal ; Cataract 34, multiple types, (3) Hyperferritinemia-cataract syndrome, (3), Autosomal ; L- ferritin deficiency, and recessive, (3), Autosomal recessive, Autosomal ; Neurodegeneration with brain iron accumulation 3, (3), Autosomal FYCO Cataract 18, autosomal recessive, (3), Autosomal recessive FZD Exudative vitreoretinopathy 1, (3), Autosomal ; Retinopathy of prematurity, (3), Autosomal GALK Galactokinase deficiency with cataracts, (3), Autosomal recessive GALT Galactosemia, (3), Autosomal recessive GCNT Adult i phenotype without cataract, (3), Autosomal ; [Blood group, Ii], (3), Autosomal ; Cataract 13 with adult i phenotype, (3), Autosomal recessive GJA Atrioventricular septal defect 3, (3), Autosomal ; Craniometaphyseal dysplasia, autosomal recessive, (3), Autosomal recessive; Erythrokeratodermia variabilis et progressiva 3, (3); Hypoplastic left heart syndrome 1, (3), Autosomal recessive; Oculodentodigital dysplasia, (3), Autosomal ; Oculodentodigital dysplasia, autosomal recessive, (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, (3), Autosomal ; Syndactyly, type III, (3), Autosomal GJA Cataract 14, multiple types, (3), Autosomal GJA Cataract 1, multiple types, (3), Autosomal HSF Cataract 5, multiple types, (3), Autosomal LEMD Cataract 46, juvenile-onset, (3), Autosomal recessive LIM Cataract 19, multiple types, (3), Autosomal recessive LSS Cataract 44, (3), Autosomal recessive MAF Ayme-Gripp syndrome, (3), Autosomal ; Cataract 21, multiple types, (3), Autosomal MIP Cataract 15, multiple types, (3), Autosomal MYH Deafness, autosomal 17, (3), Autosomal ; Epstein syndrome, (3), Autosomal ; Fechtner syndrome, (3), Autosomal ; Macrothrombocytopenia and progressive sensorineural deafness, (3), Autosomal ; May-Hegglin anomaly, (3), Autosomal ; Sebastian syndrome, (3), Autosomal 3/5

4 NF NHS OCRL OPA P3H PAX Meningioma, NF2-related, somatic, (3); Neurofibromatosis, type 2, (3), Autosomal ; Schwannomatosis, (3), Autosomal Cataract 40, X-linked, (3), X-linked; Nance-Horan syndrome, (3), X-linked Dent disease 2, (3), X-linked recessive; Lowe syndrome, (3), X-linked recessive 3-methylglutaconic aciduria, type III, (3), Autosomal recessive; Optic atrophy 3 with cataract, (3), Autosomal Myopia, high, with cataract and vitreoretinal degeneration, (3), Autosomal recessive Aniridia, (3), Autosomal ; Anterior segment dysgenesis 5, multiple subtypes, (3); Cataract with late-onset corneal dystrophy, (3), Autosomal ;?Coloboma of optic nerve, (3), Autosomal ;?Coloboma, ocular, (3), Autosomal ; Foveal hypoplasia 1, (3), Autosomal ; Keratitis, (3), Autosomal ;?Morning glory disc anomaly, (3), Autosomal ; Optic nerve hypoplasia, (3), Autosomal PITX Anterior segment dysgenesis 1, multiple subtypes, (3), Autosomal ; Cataract 11, multiple types, (3), Autosomal ; Cataract 11, syndromic, (3), Autosomal RECQL Baller-Gerold syndrome, (3), Autosomal recessive; RAPADILINO syndrome, (3), Autosomal recessive; Rothmund-Thomson syndrome, (3), Autosomal recessive SIL Marinesco-Sjogren syndrome, (3), Autosomal recessive SIPA1L ?Cataract 45, (3), Autosomal recessive SLC16A Cataract 47, juvenile, with microcornea, (3), Autosomal SLC33A Congenital cataracts, hearing loss, and neurodegeneration, (3), Autosomal recessive; Spastic paraplegia 42, autosomal, (3), Autosomal TDRD Cataract 36, (3), Autosomal recessive UNC45B ?Cataract 43, (3), Autosomal VIM Cataract 30, pulverulent, (3), Autosomal VSX Microphthalmia with coloboma 3, (3); Microphthalmia, isolated 2, (3) 4/5

5 WFS ?Cataract 41, (3), Autosomal ; Deafness, autosomal 6/14/38, (3), Autosomal ; {Diabetes mellitus, noninsulin-dependent, association with}, (3), Autosomal ; Wolfram syndrome, (3), Autosomal recessive; Wolframlike syndrome, autosomal, (3), Autosomal Gene symbols used are according to the HGNC guidelines. For some genes a previously HGNCapproved symbol is in brackets. Each Phenotype is followed by its MIM number, phenotype mapping key and inheritance pattern. OMIM release used for OMIM disease identifiers and descriptions: June 06, 2017 Possible phenotype mapping keys (1) the disorder is placed on the map based on its association with a gene, but the underlying defect is not known (2) the disorder has been placed on the map by linkage; no mutation has been found (3) the molecular basis for the disorder is known; a mutation has been found in the gene (4) a contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype Brackets, "[ ]", indicate "nondiseases," mainly genetic variations that lead to apparently abnormal laboratory test values (e.g., dysalbuminemic euthyroidal hyperthyroxinemia). Braces, "{ }", indicate mutations that contribute to susceptibility to multifactorial disorders (e.g., diabetes, asthma) or to susceptibility to infection (e.g., malaria). A question mark, "?", before the phenotype name indicates that the relationship between the phenotype and gene is provisional. More details about this relationship are provided in the comment field of the map and in the gene and phenotype OMIM entries. 5/5