Vascular Malformations_Germline
Gene: RASA1EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
A well-reported disease gene for capillary malformation-arteriovenous malformation. A somatic second hit has been proposed for the vascular lesion formation (PMIDs: 24038909; 29891884).Created: 21 Apr 2020, 12:53 a.m. | Last Modified: 21 Apr 2020, 12:53 a.m.
Panel Version: 0.81
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Capillary malformation-arteriovenous malformation 1, MIM#608354
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Capillary malformation-arteriovenous malformation, MIM# 608354
- OMIM
- 139150
- Clinvar variants
- Variants in RASA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Vascular Malformations_Germline
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Hereditary Haemorrhagic Telangiectasia
- Mosaic skin disorders
- Mendeliome
- Lymphoedema_syndromic
- Congenital diaphragmatic hernia
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rasa1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation 608354 to Capillary malformation-arteriovenous malformation, MIM# 608354
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RASA1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RASA1 was added gene: RASA1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354