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  3. RASA1
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Fetal anomalies

Gene: RASA1

Green List (high 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)

Green List (high evidence)

PMID 36980822: 21 cases presenting with hydrops.
Created: 30 May 2023, 8:29 a.m. | Last Modified: 30 May 2023, 8:29 a.m.
Panel Version: 1.108
AV malformations/fistulas, which can be large.
Sources: Literature
Created: 21 Jun 2021, 8:33 a.m. | Last Modified: 1 Mar 2022, 7:18 a.m.
Panel Version: 0.4483

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary malformation-arteriovenous malformation 1, MIM# 608354

Publications

Created: 21 Jun 2021, 8:33 a.m.
Last Modified: 1 Mar 2022, 7:18 a.m.
Panel version: 1.108

Sebastian Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

GEL review red in 2018, no evidence for link with ID since
Sources: Expert Review
Created: 27 Feb 2020, 6:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 27 Feb 2020, 6:41 a.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2238

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Expert Review
Phenotypes
  • Capillary malformation-arteriovenous malformation 1, MIM# 608354
OMIM
139150
Clinvar variants
Variants in RASA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RASA1 were set to 33461977

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rasa1 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RASA1 were changed from PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION to Capillary malformation-arteriovenous malformation 1, MIM# 608354

1 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RASA1 were set to

1 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RASA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RASA1 was added gene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION