1. Panels
  2. RASopathies
  3. RASA2
STRs in panel
Prev Next

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 5 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
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

Created: 3 Jul 2020, 10:19 a.m.
Last Modified: 3 Jul 2020, 10:19 a.m.
Panel version: 1.55

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

Created: 19 Jul 2016, 1:49 p.m.

Panel version: 1.6

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