Structural eye disease
Gene: PRPH2
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
Retinitis punctata albescens; Macular dystrophy, patterned, 1; Leber congenital amaurosis 18; Macular dystrophy, vitelliform, 3; Choriodal dystrophy, central areolar 2 ; 136880; 169150; 608133; 608161; 613105
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
Retinitis punctata albescens, 136880; Macular dystrophy, patterned, 1, 169150; Leber congenital amaurosis 18, 608133; Macular dystrophy, vitelliform, 3, 608161; Choriodal dystrophy, central areolar 2, 613105
Source NHS GMS was added to PRPH2. Mode of inheritance for gene PRPH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis punctata albescens, 136880; Leber congenital amaurosis 18, 608133; Choriodal dystrophy, central areolar 2, 613105; Macular dystrophy, vitelliform, 3, 608161; Macular dystrophy, patterned, 1, 169150 for gene: PRPH2
gene: PRPH2 was added gene: PRPH2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PRPH2 was set to Phenotypes for gene: PRPH2 were set to Eye Disorders