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  2. Vascular Malformations_Germline
  3. ACVRL1
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Vascular Malformations_Germline

Gene: ACVRL1

Green List (high evidence)
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.
Created: 16 Jan 2021, 7:15 a.m. | Last Modified: 16 Jan 2021, 7:15 a.m.
Panel Version: 0.117

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 16 Jan 2021, 7:15 a.m.
Last Modified: 16 Jan 2021, 7:15 a.m.
Panel version: 0.117

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • cerebral pulmonary arteriovenous malformation
  • pulmonary arteriovenous malformation
  • hepatic arteriovenous malformation
  • epistaxis
  • pulmonary arterial hypertension
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
  • telangiectasia
OMIM
601284
Clinvar variants
Variants in ACVRL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACVRL1 were set to

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Dec 2019, 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 Vascular Malformations_RMH. 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 cerebral pulmonary arteriovenous malformation; pulmonary arteriovenous malformation; hepatic arteriovenous malformation; epistaxis; pulmonary arterial hypertension; Telangiectasia, hereditary hemorrhagic, type 2 600376; telangiectasia