Interstitial Lung Disease
Gene: ACVRL1

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

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 10 unrelated families reported associated with childhood PAH.
Created: 29 Oct 2021, 1:02 a.m. | Last Modified: 29 Oct 2021, 1:02 a.m.

Panel Version: 0.78

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIM#601284 Hereditary Haemorrhagic Telangiectasia with/without PAH; Childhood Pulmonary Arterial Hypertension

Publications

PMID: 22632830
PMID: 27587546

Created: 29 Oct 2021, 1:02 a.m.
Last Modified: 29 Oct 2021, 1:02 a.m.
Panel version: 0.78

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Pulmonary arterial hypertension can be a feature of the condition.
Sources: Expert list
Created: 23 Jan 2020, 12:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376

Created: 23 Jan 2020, 12:02 a.m.

Panel version: Imported from Pulmonary Arterial Hypertension panel version 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list
Victorian Clinical Genetics Services

Phenotypes

Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Childhood Pulmonary Arterial Hypertension

OMIM

601284

Clinvar variants

Variants in ACVRL1

Penetrance

None

Publications

Panels with this gene