Hypertrophic cardiomyopathy
Gene: FHL1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6, X-linked (300696)Created: 25 Mar 2019, 4:30 p.m.
HCM phenocopy - well established geneCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Gene on Royal Brompton diagnostic panel. Associated with Emery-Dreifuss muscular dystrophy, which can include LVH, even in the absence of significant muscle weakness.Created: 20 Mar 2019, 12:20 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 62 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with HCM, association with X-linked myopathy with postural muscle atrophy (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
?Uruguay faciocardiomusculoskeletal syndrome (300280); Emery-Dreifuss muscular dystrophy 6, X-linked (300696); Myopathy, X-linked, with postural muscle atrophy (300696); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717); Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718); Scapuloperoneal myopathy, X-linked dominant (300695)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: On Manchester diagnostic HCM panelCreated: 11 Feb 2016, 3:19 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: FHL1 were set to 27532257; 28369730
Source South West GLH was added to FHL1.
Source London South GLH was added to FHL1.
Source North West GLH was added to FHL1. Added phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718); ?Uruguay faciocardiomusculoskeletal syndrome (300280); Scapuloperoneal myopathy, X-linked dominant (300695); Myopathy, X-linked, with postural muscle atrophy (300696); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717); Emery-Dreifuss muscular dystrophy 6, X-linked (300696) for gene: FHL1 Publications for gene FHL1 were changed from http://www.ncbi.nlm.nih.gov/pubmed/22523091 to 27532257; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091
Mode of inheritance for FHL1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FHL1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
FHL1 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN