Structural eye disease
Gene: TRPM1
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary (complete), 1C, autosomal recessive; 613216
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Mode of pathogenicity
Other - please provide details in the comments
Source NHS GMS was added to TRPM1. Mode of inheritance for gene TRPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1
gene: TRPM1 was added gene: TRPM1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TRPM1 was set to Phenotypes for gene: TRPM1 were set to Eye Disorders