Hereditary Haemorrhagic Telangiectasia
Gene: RASA1EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 13 panels
3 reviews
Arina Puzriakova (Genomics England)
PMID: 32900839 (2020) - Two unrelated cases of RASA1-related capillary malformation-arteriovenous malformation syndrome mimicking hereditary haemorrhagic telangiectasia. Features that are typically characteristic of HHT included cerebral AVMs, epistaxi, and mucocutaneous and hepatic vascular lesions in a 28-year-old male; and cyanosis, mucocutaneous telangiectasias, pulmonary and hepatic AVMs in a 9-year-old girl. Both were initially suspected for HHT but genetic testing did not detect any variants in HHT-related genes, and instead revealed LoF variants in RASA1. Segregation analysis confirmed de novo occurrence in the male; however, the variant found in the female was also identified in three non-symptomatic relatives.Created: 2 Oct 2020, 2:52 p.m. | Last Modified: 2 Oct 2020, 2:52 p.m.
Panel Version: 0.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Capillary malformation-arteriovenous malformation 1, 608354
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Similarly to EPHB4, phenotypic overlap with HHT.Created: 27 Jul 2020, 4:26 a.m. | Last Modified: 27 Jul 2020, 4:26 a.m.
Panel Version: 0.9
Naomi Baker (Victorian Clinical Genetics Services)
Currently red in Genomics England PanelApp, however not reviewed since 2016.
PMID: 27081547 - Two individuals with monoallelic missense mutations. No functional studies or segregation information.
PMID: 29891884 - Report of clinical and molecular findings in 69 unrelated cases with a RASA1 variant identified at ARUP labs; includes 60 individuals with a pathogenic variant and nine individuals with VUS. RASA1 variants associated with capillary malformation-arteriovenous malformation.
PMID: 30507091 - homozygous missense variant associated with tricuspid valce atresia in a consanguineous family. Heterozygous carriers presenting with capillary malformations.Created: 19 May 2020, 10:39 a.m. | Last Modified: 19 May 2020, 10:39 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Capillary malformation-arteriovenous malformation 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 27081547; 29891884; 30507091
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 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 Hereditary Haemorrhagic Telangiectasia_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