Dilated Cardiomyopathy and conduction defects

Gene: FHL1

Red List (low evidence)

FHL1 (four and a half LIM domains 1)
EnsemblGeneIds (GRCh38): ENSG00000022267
EnsemblGeneIds (GRCh37): ENSG00000022267
OMIM: 300163, Gene2Phenotype
FHL1 is in 13 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

?Uruguay faciocardiomusculoskeletal syndrome OMIM#300280; Emery-Dreifuss muscular dystrophy 6, X-linked OMIM# 300696; Myopathy, X-linked, with postural muscle atrophy OMIM#300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset OMIM#300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset OMIM#300718; Scapuloperoneal myopathy, X-linked dominant OMIM#300695.
Created: 25 Mar 2019, 4:30 p.m.
Core HCM gene
Created: 25 Mar 2019, 4:27 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)

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

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

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

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
  • South West GLH
  • Oxford Medical Genetics Laboratory
OMIM
300163
Clinvar variants
Variants in FHL1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to FHL1. Mode of inheritance for gene FHL1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

17 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FHL1 was created by ellenmcdonagh

17 Aug 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FHL1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory