Gene | Disease, # OMIM entry | Gene coordinate Chr 22 (GRCh38) | Mode of inheritance | Phenotype features |
---|---|---|---|---|
FBLN1 Fibulin 1 | Synpolydactyly-2 (SPD2) #608,180 | 45,502,883–45,601,135 | AD | Hand syndactyly/synpolydactyly (3rd or 4th digits), feet Syndactyly (2nd, 3rd, 4th digits), hand and feet metatarsal synostosis (3rd and 4th digits), hand and feet Symmetric, bilateral malformations |
ATXN10 Ataxin 10 | Spinocerebellar ataxia-10 (SCA10) #603,516 | 45,671,834–45,845,307 | AD repeat expansion (ATTCT)n | Progressive cerebellar ataxia and atrophy, scanning speech, seizures, hyperreflexia, cognitive impairment, dementia, nystagmus, dysphagia, urinary incontinence, age at onset 14 to 44 years |
PPARA Peroxisome proliferator-activated receptor-alpha | Susceptibility to hyper-apobetalipoproteinemia | 46,150,526–46,243,756 | - | Physiological function during various nutritional states, possible role in several chronic diseases (PMID: 10,839,530) |