Dilated Cardiomyopathy and conduction defects
Gene: FHL1EnsemblGeneIds (GRCh38): ENSG00000022267
EnsemblGeneIds (GRCh37): ENSG00000022267
OMIM: 300163, Gene2Phenotype
FHL1 is in 11 panels
2 reviews
Rebecca Whittington (South West GLH)
?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 geneCreated: 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)
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
-
- DDG2P
- Fetal anomalies
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Distal myopathies
- Congenital muscular dystrophy
- Intellectual disability
History Filter Activity
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)
Created
Ellen McDonagh (Genomics England Curator)FHL1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FHL1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory