Structural eye disease
Gene: PDE6B
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
Night blindness, congenital stationary, autosomal dominant 2; Retinitis pigmentosa-40; 163500; 613801
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
Night blindness, congenital stationary, autosomal dominant 2; Retinitis pigmentosa-40; 163500; 613801
Mode of pathogenicity
Other - please provide details in the comments
Source NHS GMS was added to PDE6B. Mode of inheritance for gene PDE6B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa-40; 163500; Night blindness, congenital stationary, autosomal dominant 2; 613801 for gene: PDE6B
gene: PDE6B was added gene: PDE6B was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PDE6B was set to Phenotypes for gene: PDE6B were set to Eye Disorders