Dilated Cardiomyopathy and conduction defects

Gene: RAB3GAP2

Red List (low evidence)

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

5 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Red. There is no evidence to support this gene-disease association.
Created: 15 Apr 2021, 10:51 a.m. | Last Modified: 15 Apr 2021, 10:51 a.m.
Panel Version: 1.68

Dmitrijs Rots (RadboudUMC)

Red List (low evidence)

Causes Martsolf syndrome and Warburg micro syndrome 2 .

Cannot find available evidence for association with DCM.
Created: 21 Oct 2020, 5:32 p.m. | Last Modified: 21 Oct 2020, 5:32 p.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Rebecca Whittington (South West GLH)

Red List (low evidence)

Martsolf syndrome OMIM#212720; Warburg micro syndrome 2 OMIM#614225
Created: 25 Mar 2019, 4:30 p.m.
?? Cannot find anything relevant in google or gene reviews - one paper in 2017 re severe DCM in the ITPA gene which has features similar to RAB3GAP2 ( Martsolf syndrome and DCM).
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.
Created: 17 Jan 2019, 5:41 p.m.

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
212720; 614225

Publications

History Filter Activity

29 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RAB3GAP2 were changed from 212720; 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rab3gap2 has been classified as Red List (Low Evidence).

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to RAB3GAP2.

17 Jan 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source Wessex and West Midlands GLH was added to RAB3GAP2. Rating Changed from Green List (high evidence) to Green List (high evidence)

17 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RAB3GAP2 was created by ellenmcdonagh

17 Aug 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RAB3GAP2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review,Expert Review Green