Hereditary haemorrhagic telangiectasia
Gene: ACVRL1EnsemblGeneIds (GRCh38): ENSG00000139567
EnsemblGeneIds (GRCh37): ENSG00000139567
OMIM: 601284, Gene2Phenotype
ACVRL1 is in 9 panels
5 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton HHT panel. Extensive literature evidenceCreated: 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 (Oxford University Hospitals NHS Foundation Trust)
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
- PMID: 30244195
Louise Daugherty (Genomics England Curator)
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 givenCreated: 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 reportedCreated: 12 Dec 2016, 11:30 a.m.
Claire Shovlin (Imperial College London)
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
-
- NHS GMS
- 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
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)
Upload gene information
Ellen McDonagh (Genomics England Curator)ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 (12th December 2016)
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Set publications
Sarah Leigh (Genomics England Curator)Publications for ACVRL1 were set to 8640225;16155196;14684682
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ACVRL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Emory Genetics Laboratory
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
Added New Source
Ellen McDonagh (Genomics England Curator)ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ACVRL1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Eligibility statement prior genetic testing