Hereditary haemorrhagic telangiectasia
Gene: ACVRL1
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
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
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.
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.
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
Source NHS GMS was added to ACVRL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Eligibility statement prior genetic testing
Promoted to V1 (12th December 2016)
This gene has been classified as Green List (High Evidence).
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
Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Publications for ACVRL1 were set to 8640225;16155196;14684682
Mode of inheritance for ACVRL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Illumina TruGenome Clinical Sequencing Services
ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN
ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Emory Genetics Laboratory
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
ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Radboud University Medical Center, Nijmegen
ACVRL1 was created by ellenmcdonagh
ACVRL1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Eligibility statement prior genetic testing