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Prepair 1000+

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

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.

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. At least two families reported.

Congenital onset.
Created: 30 Jul 2024, 7:07 a.m. | Last Modified: 30 Jul 2024, 7:07 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Jul 2024, 7:07 a.m.
Last Modified: 30 Jul 2024, 7:07 a.m.
Panel version: 1.65

History Filter Activity

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Warburg micro syndrome 1, 600118 (3) for gene: RAB3GAP1

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)