Lymphoedema_syndromic
Gene: RASA1
RASA1 (RAS p21 protein activator 1)
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Capillary malformation-arteriovenous malformation 1 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
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: RASA1 was added gene: RASA1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RASA1 were set to 26969842; 22342634; 23650393 Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1 608354