Pigmentary skin disorders

Gene: RASA2

Red List (low evidence)

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

1 review

Catherine Snow (Genomics England)

Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Red gene.
Created: 17 Sep 2019, 5:08 p.m. | Last Modified: 17 Sep 2019, 5:08 p.m.
Panel Version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Noonan syndrome?
OMIM
601589
Clinvar variants
Variants in RASA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: RASA2 was added gene: RASA2 was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA2 were set to 25049390 Phenotypes for gene: RASA2 were set to Noonan syndrome?