Dilated Cardiomyopathy and conduction defects
Gene: RAB3GAP2Comment 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
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
Martsolf syndrome OMIM#212720; Warburg micro syndrome 2 OMIM#614225Created: 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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
212720; 614225
Publications
Phenotypes for gene: RAB3GAP2 were changed from 212720; 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Gene: rab3gap2 has been classified as Red List (Low Evidence).
Source South West GLH was added to RAB3GAP2.
Source Wessex and West Midlands GLH was added to RAB3GAP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
RAB3GAP2 was created by ellenmcdonagh
RAB3GAP2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review,Expert Review Green