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| Cataract v0.169 | ABHD12 | Zornitza Stark Phenotypes for gene: ABHD12 were changed from Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.168 | ABHD12 | Zornitza Stark reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.165 | ABHD12 | Seb Lunke Marked gene: ABHD12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.165 | ABHD12 | Seb Lunke Gene: abhd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.165 | ABHD12 | Seb Lunke Classified gene: ABHD12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.165 | ABHD12 | Seb Lunke Gene: abhd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.164 | ABHD12 |
Seb Lunke gene: ABHD12 was added gene: ABHD12 was added to Cataract. Sources: Literature Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 32077159; 29571850; 28448692; 24697911 Phenotypes for gene: ABHD12 were set to Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts Added comment: Two siblings each from two families with hom nonsense and PHARC syndrome and early on-set cataract, and a complex homozygous nonsense variant in an adult with early on-set cataract have been descibed recently in addition to original mutations described in 11 families from 4 different countries (Fiskerstrand et al (2010)). Total over 10 independent cases mentioned in literature. Sources: Literature |
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