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| Syndromic Retinopathy v0.237 | ABHD12 | Zornitza Stark Marked gene: ABHD12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.237 | ABHD12 | Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.237 | ABHD12 | Zornitza Stark Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.236 | ABHD12 | Zornitza Stark Publications for gene: ABHD12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.235 | ABHD12 | Zornitza Stark changed review comment from: More than 5 unrelated families reported, progressive condition.; to: More than 5 unrelated families reported, progressive condition. RP is part of a more complex phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.0 | ABHD12 |
Bryony Thompson gene: ABHD12 was added gene: ABHD12 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 |
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