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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.159 | ABHD12 |
Sangavi Sivagnanasundram changed review comment from: 20797687 - only one individual presenting with nonsyndromic RP. Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC syndrome) is a form of syndromic RP. This association is green on syndromic RP.; to: 20797687 - only one individual presenting with nonsyndromic RP. Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC syndrome) is a form of syndromic RP. This association is green on syndromic RP. Multiple individuals reported with syndromic RP. |
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.159 | ABHD12 | Sangavi Sivagnanasundram reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: None; Publications: 20797687; Phenotypes: PHARC syndrome MONDO:0012984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.38 | ABHD12 | Bryony Thompson 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 nonsyndromic retinitis pigmentosa; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.37 | ABHD12 | Bryony Thompson Publications for gene: ABHD12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | ABHD12 |
Bryony Thompson gene: ABHD12 was added gene: ABHD12 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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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