Structural eye disease
Gene: RAB3GAP2
Handley et al. 2013 reported many families with Warburg Micro and Martsolf syndromeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Handley et al. 2013 reported many families with Warburg Micro and Martsolf syndromeCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Warburg Micro Syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Source NHS GMS was added to RAB3GAP2. Added phenotypes Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Warburg Micro Syndrome for gene: RAB3GAP2 Publications for gene RAB3GAP2 were changed from to 23420520
gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome