Paediatric or syndromic cardiomyopathy
Gene: RASA2EnsemblGeneIds (GRCh38): ENSG00000155903
EnsemblGeneIds (GRCh37): ENSG00000155903
OMIM: 601589, Gene2Phenotype
RASA2 is in 4 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Ellen Thomas (Genomics England Curator)
Need to consider whether to add this gene to the panel when next curated.Created: 19 Jul 2016, 1:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome?
Publications
- PMID: 25049390
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- London South GLH
- Phenotypes
-
- Noonan syndrome?
- OMIM
- 601589
- Clinvar variants
- Variants in RASA2
- Penetrance
- None
- Publications
-
- PMID: 25049390
- Panels with this gene
History Filter Activity
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RASA2. Source Expert Review Amber was added to RASA2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RASA2 was added gene: RASA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RASA2 were set to PMID: 25049390 Phenotypes for gene: RASA2 were set to Noonan syndrome?