Hypertrophic cardiomyopathy - teen and adult

Gene: FHL1

Green List (high evidence)

FHL1 (four and a half LIM domains 1)
EnsemblGeneIds (GRCh38): ENSG00000022267
EnsemblGeneIds (GRCh37): ENSG00000022267
OMIM: 300163, Gene2Phenotype
FHL1 is in 11 panels

6 reviews

Rebecca Whittington (South West GLH)

Green List (high evidence)

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 gene
Created: 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

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

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

I don't know

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.

James Eden (Manchester)

Green List (high evidence)

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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic HCM panel
Created: 11 Feb 2016, 3:19 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)
  • Myopathy, X-linked, with postural muscle atrophy (300696)
  • ?Uruguay faciocardiomusculoskeletal syndrome (300280)
  • Scapuloperoneal myopathy, X-linked dominant (300695)
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)
  • Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
OMIM
300163
Clinvar variants
Variants in FHL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FHL1 were set to 27532257; 28369730

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to FHL1.

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to FHL1.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

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)

11 Feb 2016, Gel status: 4

Set publications

Caroline Wright (Genomics England Curator)

Publications for FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091

11 Feb 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for FHL1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FHL1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FHL1 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN