Dilated Cardiomyopathy and conduction defects
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 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 (Children's Clinical University Hospital)
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)
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
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
212720; 614225
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Wessex and West Midlands GLH
- Expert Review
- Phenotypes
-
- Martsolf syndrome 1, OMIM:212720
- Warburg micro syndrome 2, OMIM:614225
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Structural eye disease
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Skeletal dysplasia
- Fetal anomalies
- Childhood onset hereditary spastic paraplegia
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rab3gap2 has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to RAB3GAP2.
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)
Created
Ellen McDonagh (Genomics England Curator)RAB3GAP2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RAB3GAP2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review,Expert Review Green