Malformations of cortical development
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Warburg micro syndrome 2, OMIM:614225
- Warburg micro syndrome 2 MONDO:0013641
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Dilated Cardiomyopathy and conduction defects
- Corneal abnormalities
- Fetal anomalies
- Structural eye disease
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Skeletal dysplasia
- Hereditary spastic paraplegia
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Adult onset hereditary spastic paraplegia
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Anophthalmia or microphthalmia
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: RAB3GAP2.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: RAB3GAP2 were set to 23420520; 20967465
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_21_rating tag was added to gene: RAB3GAP2.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, MIM# 614225 to Warburg micro syndrome 2, OMIM:614225
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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