Structural eye disease
Gene: PROM1
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12; 603786; 608051; 612095; 612657
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657
Mode of pathogenicity
Other - please provide details in the comments
Source NHS GMS was added to PROM1. Mode of inheritance for gene PROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Cone-rod dystrophy 12, 612657; Retinitis pigmentosa 41, 612095 for gene: PROM1
gene: PROM1 was added gene: PROM1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PROM1 was set to Phenotypes for gene: PROM1 were set to Eye Disorders