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Retinal disorders v4.40 | RCBTB1 | Arina Puzriakova Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175 to Familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, OMIM:617175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v3.6 | STN1 | Eleanor Williams reviewed gene: STN1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Coats plus syndrome, cerebroretinal microangiopathy with calcifications and cysts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v1.159 | OAT | Gavin Arno reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v1.137 | OAT |
Ivone Leong Source NHS GMS was added to OAT. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Retinal disorders v1.118 | RCBTB1 | Ivone Leong Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease to familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175 |