Hydrops fetalis
Gene: RASA1EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 13 panels
2 reviews
Lilian Downie (Victorian Clinical Genetics Services)
21 previous reports and 4 in this paper of presentation with fetal hydrops/chylothoraxCreated: 24 May 2023, 11:27 p.m. | Last Modified: 24 May 2023, 11:27 p.m.
Panel Version: 0.298
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?
Publications
- PMID:36980822
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single case report.
Sources: Expert listCreated: 13 Aug 2020, 11:10 p.m.
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
- Expert list
- Phenotypes
-
- Capillary malformation-arteriovenous malformation 1, 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RASA1 were set to 26096958
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rasa1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rasa1 has been classified as Red List (Low Evidence).
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 Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA1 were set to 26096958 Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM# 608354 Review for gene: RASA1 was set to RED