Distal myopathies
Gene: FHL1

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Also discussed with Dr Bugiardini (UCL Institute of Neurology) - mutations in this gene can cause distal myopathy
Created: 20 Feb 2017, 4:17 p.m.

22094483 describes 3 variants in 5 patients with myofibrillar myopathies – and reducing bodies.
Created: 9 Feb 2017, 12:28 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718

Publications

Created: 9 Feb 2017, 12:28 p.m.

Panel version: 0.10

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Expert Review

Phenotypes

Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718

OMIM

300163

Clinvar variants

Variants in FHL1

Penetrance

Complete

Publications

Panels with this gene