Malformations of cortical development
Gene: RAB3GAP1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least 13 variants reported in at least 12 unrelated casesCreated: 14 Dec 2021, 5:15 p.m. | Last Modified: 14 Dec 2021, 5:15 p.m.
Panel Version: 2.125
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Dec 2021, 5:08 p.m. | Last Modified: 14 Dec 2021, 5:08 p.m.
Panel Version: 2.124
Comment on publications: More cases PMID: 32740904Created: 13 Dec 2021, 11:50 a.m. | Last Modified: 13 Dec 2021, 11:50 a.m.
Panel Version: 2.118
Polymicrogyria is a well described phenotypic feature of Micro syndrome, caused by RAB3GAP1 and other genes.
PMID: 23420520 - at least 4 unrelated families with polymicrogyria
Sources: Expert listCreated: 28 Aug 2020, 2:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 1, MIM# 600118
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_rating was removed from gene: RAB3GAP1.
Source Expert Review Green was added to RAB3GAP1. Source NHS GMS was added to RAB3GAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: RAB3GAP1 were set to 23420520; 32740904
Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, OMIM:600118 to Warburg micro syndrome 1 OMIM:600118; Warburg micro syndrome 1 MONDO:0010822
Tag Q4_21_rating tag was added to gene: RAB3GAP1.
Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Publications for gene: RAB3GAP1 were set to 23420520
Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, OMIM:600118
gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP1 were set to 23420520 Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, MIM# 600118 Review for gene: RAB3GAP1 was set to GREEN gene: RAB3GAP1 was marked as current diagnostic