Inherited bleeding disorders

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 9 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Created: 20 Sep 2018, 1:06 p.m.
Comment on publications: Added publications to support upgrading of the gene to Green. More than three unrelated cases in a range of ethnicities has been reported for HHT type 2
Created: 20 Sep 2018, 1:01 p.m.
Comment on phenotypes: added the OMIM MIMid
Created: 20 Sep 2018, 10:43 a.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list
Created: 20 Sep 2018, 10:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, 600376
  • Bleeding disorder
OMIM
601284
Clinvar variants
Variants in ACVRL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Sep 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ACVRL1 were set to 29923633; 8640225; 30177223; 16155196; 14684682

20 Sep 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ACVRL1 were set to 8640225

20 Sep 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2, 600376 to Telangiectasia, hereditary hemorrhagic, type 2, 600376; Bleeding disorder

20 Sep 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

20 Sep 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ACVRL1 was added gene: ACVRL1 was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVRL1 were set to 8640225 Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 Review for gene: ACVRL1 was set to GREEN