Cerebral vascular malformations
Gene: ACVRL1

ACVRL1 (activin A receptor like type 1)
EnsemblGeneIds (GRCh38): ENSG00000139567
EnsemblGeneIds (GRCh37): ENSG00000139567
OMIM: 601284, Gene2Phenotype
ACVRL1 is in 14 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as DEFINITIVE by ClinGen HHT panel on 05/12/2022 - https://search.clinicalgenome.org/CCID:004050

Cerebral AVMs is a feature in many affected individuals.
Created: 18 Nov 2024, 12:18 a.m. | Last Modified: 18 Nov 2024, 12:18 a.m.

Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
telangiectasia, hereditary hemorrhagic, type 2 MONDO:0010880

Publications

86402252, 17384219, 26176610, 9245985 20364125, 20414677

Created: 18 Nov 2024, 12:18 a.m.
Last Modified: 18 Nov 2024, 12:18 a.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

Telangiectasia, hereditary hemorrhagic, type 2 600376

OMIM

601284

Clinvar variants

Variants in ACVRL1

Penetrance

None

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACVRL1 was added gene: ACVRL1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376

Cerebral vascular malformations Gene: ACVRL1