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Mendeliome

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

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, 11:38 p.m. | Last Modified: 2 Feb 2020, 11:38 p.m.
Panel Version: 0.1175

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
OMIM
601589
Clinvar variants
Variants in RASA2
Penetrance
None
Panels with this gene

History Filter Activity

2 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

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

2 Feb 2020, Gel status: 2

Set mode of inheritance

Sebastian Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: RASA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RASA2 was added gene: RASA2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RASA2 was set to Unknown