Rasopathy
Gene: RASA2

RASA2 (RAS p21 protein activator 2)
EnsemblGeneIds (GRCh38): ENSG00000155903
EnsemblGeneIds (GRCh37): ENSG00000155903
OMIM: 601589, Gene2Phenotype
RASA2 is in 5 panels

1 review

Sebastian Lunke (Victorian Clinical Genetics Services)

I don't know

One previous paper from 2014 described 3 patients with Noonan Syndrome and novel variants in RASA2. No segregation or functional data on the specific variants was provided. One of the three patients had an alternative variant in a different candidate gene.

A more recent review using ClinGen criteria (2018) only found the disease association to have limited evidence, with no further patients identified since the 2014 paper, and none since.
Created: 2 Feb 2020, 11:33 p.m. | Last Modified: 2 Feb 2020, 11:33 p.m.

Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 2 Feb 2020, 11:33 p.m.
Last Modified: 2 Feb 2020, 11:33 p.m.
Panel version: 0.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Rasopathy

OMIM

601589

Clinvar variants

Variants in RASA2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RASA2 were changed from to Rasopathy

2 Feb 2020, Gel status: 2