Hereditary haemorrhagic telangiectasia

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 10 panels

5 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton HHT panel. Extensive literature evidence
Created: 22 Sep 2019, 7:49 p.m. | Last Modified: 22 Sep 2019, 8:03 p.m.
Panel Version: 1.51

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

Phenotypes
OMIM: 600376 Telangiectasia, hereditary hemorrhagic, type 2

Publications

Variants in this GENE are reported as part of current diagnostic practice

Anna de Burca (Genomics England Curator)

Green List (high evidence)

This paper reports a 'mutational hotspot' in intron 9 of ACVRL1. 8/122 cases of HHT had non-coding variants that disrupted splicing, 7 of which were located in a ~300 bp CT-rich region in intron 9. This has implications for the analysis of non-coding regions for this gene.
Created: 18 Jan 2019, 9:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted ACVRL1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM HHT gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 12:36 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 15 variants reported
Created: 12 Dec 2016, 11:30 a.m.

Claire Shovlin (Imperial College London)

Green List (high evidence)

OMIM #600376 (HHT type 2, PMID 8640225)
Phenotypic differences to HHT type 1
a) Frequency of hepatic, pulmonary and cerebral AVMs (PMID: 16155196)
b) Usual cause of pulmonary arterial hypertension in HHT (PMID: 14684682)

Created: 13 Nov 2016, 9:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
epistaxis; telangiectasia; hepatic arteriovenous malformation; pulmonary arteriovenous malformation; cerebral pulmonary arteriovenous malformation; pulmonary arterial hypertension

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
  • epistaxis
  • telangiectasia
  • hepatic arteriovenous malformation
  • pulmonary arteriovenous malformation
  • cerebral pulmonary arteriovenous malformation
  • pulmonary arterial hypertension
OMIM
601284
Clinvar variants
Variants in ACVRL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACVRL1. Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Dec 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Eligibility statement prior genetic testing

12 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 (12th December 2016)

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Dec 2016, Gel status: 6

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376; epistaxis; telangiectasia; hepatic arteriovenous malformation; pulmonary arteriovenous malformation; cerebral pulmonary arteriovenous malformation; pulmonary arterial hypertension

12 Dec 2016, Gel status: 6

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376

12 Dec 2016, Gel status: 6

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACVRL1 were set to 8640225;16155196;14684682

12 Dec 2016, Gel status: 6

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ACVRL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN

30 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Emory Genetics Laboratory

30 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Radboud University Medical Center, Nijmegen

30 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACVRL1 was created by ellenmcdonagh

30 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Eligibility statement prior genetic testing