Structural eye disease
Gene: RIMS1
Li has reported variant in coloboma, among a BEST1 variant - not overly convincing, otherwise only retinal casesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cone-rod dystrophy 7; 603649
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Li has reported variant in coloboma, among a BEST1 variant - not overly convincing, otherwise only retinal casesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cone-rod dystrophy 7, 603649
Publications
Mode of pathogenicity
Other - please provide details in the comments
Source NHS GMS was added to RIMS1. Mode of inheritance for gene RIMS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cone-rod dystrophy 7, 603649 for gene: RIMS1 Publications for gene RIMS1 were changed from to 28677725
gene: RIMS1 was added gene: RIMS1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RIMS1 was set to Phenotypes for gene: RIMS1 were set to Eye Disorders