Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1.

Human mutation - 1 Jan 2024

DeMille Desiree, McDonald Jamie, Bernabeu Carmelo, Racher Hilary, Olivieri Carla, Cantarini Claudia, Sbalchiero Anna, Thompson Bryony A, Jovine Luca, Shovlin Claire L, Dupuis-Girod Sophie, Lesca Gaetan, Tusseau Maud, Ganguly Arupa, Kasthuri Raj S, Jessen Jaime, Massink Maarten P G, Ichikawa Shoji, Bayrak-Toydemir Pinar

Abstract excerpt

The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and disease-specific modifications and specifications of these general guidelines to optimize and standardize variant classification was recognized at the time of publication. With...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Tracheal and airway disorders
Share to Vascular Anomalies and Treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 40225928
DOI: 10.1155/2024/3043736
PMCID: PMC11919242

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1PMID 40225928Read ↗

Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databases.Semantic proximity Read ↗

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia prevalence estimates calculated from gnomAD allele frequencies of predicted pathogenic variants in<i>ENG</i>and<i>ACVRL1</i>Semantic proximity Read ↗

Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.Semantic proximity Read ↗

Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.Semantic proximity Read ↗

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

A Study on the Clinical Phenotypes and Genetic Analysis of ENG Variants in Four Hereditary Hemorrhagic Telangiectasia Type 1 Families.Semantic proximity Read ↗

Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new eraSemantic proximity Read ↗

Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).Semantic proximity Read ↗

Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.