Familial pulmonary fibrosis

Gene: ACVRL1

Red List (low evidence)

ACVRL1 (activin A receptor like type 1)
EnsemblGeneIds (GRCh38): ENSG00000139567
EnsemblGeneIds (GRCh37): ENSG00000139567
OMIM: 601284, Gene2Phenotype
ACVRL1 is in 10 panels

2 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)

HHT and AVMs not fibrosis
Created: 26 Apr 2017, 9:45 a.m.

Alice Gardham (Genomics England)

Comment when marking as ready: HHT with pulmonary AVMs. No fibrosis so incorrect phenotype
Created: 8 Feb 2017, 7:11 p.m.

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2

8 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACVRL1 was created by ellenmcdonagh