Structural eye disease
Gene: RAB3GAP1EnsemblGeneIds (GRCh38): ENSG00000115839
EnsemblGeneIds (GRCh37): ENSG00000115839
OMIM: 602536, Gene2Phenotype
RAB3GAP1 is in 10 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Aligianis et al. reported variants in 5 families with Warburg Micro syndromeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 1, 600118; Warburg Micro Syndrome
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Aligianis et al. reported variants in 5 families with Warburg Micro syndromeCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 1, 600118; Warburg Micro Syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Warburg micro syndrome 1, 600118
- Warburg Micro Syndrome
- OMIM
- 602536
- Clinvar variants
- Variants in RAB3GAP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RAB3GAP1. Added phenotypes Warburg micro syndrome 1, 600118; Warburg Micro Syndrome for gene: RAB3GAP1 Publications for gene RAB3GAP1 were changed from to 21473985
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118; Warburg Micro Syndrome