Stroke
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, TIAs and stroke are a feature.
Created: 10 Mar 2021, 12:22 a.m. | Last Modified: 10 Mar 2021, 12:22 a.m.

Panel Version: 0.62

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376

Created: 10 Mar 2021, 12:22 a.m.
Last Modified: 10 Mar 2021, 12:22 a.m.
Panel version: 0.62

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376

OMIM

601284

Clinvar variants

Variants in ACVRL1

Penetrance

None

Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acvrl1 has been classified as Green List (High Evidence).

10 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376

22 Apr 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACVRL1 was added gene: ACVRL1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital 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

Stroke Gene: ACVRL1