Malformations of cortical development
Gene: RAB3GAP1EnsemblGeneIds (GRCh38): ENSG00000115839
EnsemblGeneIds (GRCh37): ENSG00000115839
OMIM: 602536, Gene2Phenotype
RAB3GAP1 is in 10 panels
4 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 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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Warburg micro syndrome 1 OMIM:600118
- Warburg micro syndrome 1 MONDO:0010822
- OMIM
- 602536
- Clinvar variants
- Variants in RAB3GAP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: RAB3GAP1.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: RAB3GAP1 were set to 23420520; 32740904
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_21_rating tag was added to gene: RAB3GAP1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: RAB3GAP1 were set to 23420520
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, OMIM:600118
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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