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  3. RASA1
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Mosaic skin disorders

Gene: RASA1

Amber List (moderate evidence)
RASA1 (RAS p21 protein activator 1)
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Predominantly vascular malformations of the skin.
Created: 18 Feb 2021, 7:53 a.m. | Last Modified: 18 Feb 2021, 7:53 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary malformation-arteriovenous malformation syndrome

Created: 18 Feb 2021, 7:53 a.m.
Last Modified: 18 Feb 2021, 7:53 a.m.
Panel version: 0.10

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:10 a.m.
Last Modified: 18 Feb 2021, 6:10 a.m.
Panel version: 1.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Capillary malformation-arteriovenous malformation syndrome
OMIM
139150
Clinvar variants
Variants in RASA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rasa1 has been classified as Amber List (Moderate Evidence).

18 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rasa1 has been classified as Amber List (Moderate Evidence).

18 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RASA1 was added gene: RASA1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA1 were set to 30635911; 24038909 Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome