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Cardiomyopathies - including childhood onset

Gene: RASA2

Amber List (moderate evidence)

RASA2 (RAS p21 protein activator 2)
EnsemblGeneIds (GRCh38): ENSG00000155903
EnsemblGeneIds (GRCh37): ENSG00000155903
OMIM: 601589, Gene2Phenotype
RASA2 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

I don't know

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

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
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 2

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)

4 Sep 2019, Gel status: 1

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?