1. Panels
  2. Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
  3. FHL1
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

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

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: EDMD is an important differential
Created: 29 May 2016, 7:35 p.m.
Created: 29 May 2016, 7:35 p.m.

Panel version: 0.40

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
  • Emery-Dreifuss muscular dystrophy
OMIM
300163
Clinvar variants
Variants in FHL1
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

29 May 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

FHL1 was added to Limb girdle muscular dystrophypanel. Sources: Expert Review

29 May 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

FHL1 was created by EllenThomas