RASopathies

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Three unrelated cases but very limited details and no segregation data. Not associated with any phenotype in OMIM or G2P. Rated Amber, awaiting additional publications/clinical evidence to corroborate causality.
Created: 5 Aug 2020, 8:19 a.m. | Last Modified: 5 Aug 2020, 8:19 a.m.
Panel Version: 1.57

Zornitza Stark (Australian Genomics)

I don't know

Rated as LIMITED by ClinGen, three individuals reported but limited information provided.
Created: 3 Jul 2020, 10:19 a.m. | Last Modified: 3 Jul 2020, 10:19 a.m.
Panel Version: 1.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome

Publications

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, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Noonan syndrome?
OMIM
601589
Clinvar variants
Variants in RASA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Aug 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RASA2 were set to PMID: 25049390

5 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rasa2 has been classified as Amber List (Moderate Evidence).

19 Jul 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

RASA2 was added to RASopathiespanel. Sources: Other

19 Jul 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

RASA2 was created by EllenThomas