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Gene: RAB3GAP2

Green List (high evidence)
RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 16 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Martsolf syndrome and Warburg Micro syndrome are clinically overlapping autosomal recessive conditions characterised by congenital cataracts, microphthalmia, microcephaly, hypotonia and neurodevelopmental delay, in which Martsolf syndrome presents with a milder phenotype compared with the more severe Warburg Micro syndrome. Onset is congenital. Functional studies present.

Clingen lumping: no difference in molecular mechanism or inheritance pattern between these conditions. Therefore Martsolf syndrome 1 (MIM: 212720) and Warburg micro syndrome 2 (MIM: 614225) have been lumped into one disease entity - Warburg micro syndrome MONDO:0016649.
Created: 9 Dec 2024, 1:01 a.m. | Last Modified: 9 Dec 2024, 1:01 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome MONDO:0016649

Publications

Created: 9 Dec 2024, 1:01 a.m.
Last Modified: 9 Dec 2024, 1:01 a.m.
Panel version: 1.633

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab3gap2 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, 614225 (3) to Warburg micro syndrome MONDO:0016649

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAB3GAP2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Warburg micro syndrome 2, 614225 (3) for gene: RAB3GAP2

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: RAB3GAP2 was added gene: RAB3GAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)