1. Panels
  2. Fetal anomalies
  3. RAB3GAP1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: RAB3GAP1

Green List (high evidence)
RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000115839
EnsemblGeneIds (GRCh37): ENSG00000115839
OMIM: 602536, Gene2Phenotype
RAB3GAP1 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Warburg micro: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.

Martsolf syndrome is characterised by cataracts, mild to severe ID, dysmorphic features. Two families reported.
Created: 9 Jul 2021, 4:19 a.m. | Last Modified: 9 Jul 2021, 4:19 a.m.
Panel Version: 0.3959

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420

Publications

Created: 9 Jul 2021, 4:19 a.m.
Last Modified: 9 Jul 2021, 4:19 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3959

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

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
Created: 27 May 2020, 6:50 a.m. | Last Modified: 27 May 2020, 6:50 a.m.
Panel Version: 0.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 1 600118

Publications

Created: 27 May 2020, 6:50 a.m.
Last Modified: 27 May 2020, 6:50 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.73

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Warburg micro syndrome 1, MIM# 600118
  • Martsolf syndrome 2, MIM# 619420
OMIM
602536
Clinvar variants
Variants in RAB3GAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab3gap1 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAB3GAP1 were changed from WARBURG MICRO SYNDROME TYPE 1 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420

1 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAB3GAP1 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1