Malformations of cortical development
Gene: RAB3GAP2
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, but not associated with Warburg micro syndrome 2 OMIM:614225 in Gen2Phen. At least four variants reported in at least four unrelated cases..Created: 14 Dec 2021, 5:36 p.m. | Last Modified: 14 Dec 2021, 5:36 p.m.
Panel Version: 2.127
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Dec 2021, 5:32 p.m. | Last Modified: 14 Dec 2021, 5:32 p.m.
Panel Version: 2.127
Polymicrogyria is a well described phenotypic feature in Micro syndrome caused by variants in RAB3GAP2 and other genes.
PMID: 23420520 – at least 3 unrelated families with polymicrogyria
PMID: 20967465 - single proband with polymicrogyria
Sources: Expert listCreated: 28 Aug 2020, 2:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 2, MIM# 614225
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_rating was removed from gene: RAB3GAP2.
Source Expert Review Green was added to RAB3GAP2. Source NHS GMS was added to RAB3GAP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, OMIM:614225 to Warburg micro syndrome 2, OMIM:614225; Warburg micro syndrome 2 MONDO:0013641
Publications for gene: RAB3GAP2 were set to 23420520; 20967465
Tag Q4_21_rating tag was added to gene: RAB3GAP2.
Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, MIM# 614225 to Warburg micro syndrome 2, OMIM:614225
gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to 23420520; 20967465 Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, MIM# 614225 Review for gene: RAB3GAP2 was set to GREEN gene: RAB3GAP2 was marked as current diagnostic