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Severe Paediatric Disorders

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 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FHL1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) | Myopathy, X-linked, with postural muscle atrophy, 300696 (3) | Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3) | Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3) | Scapuloperoneal myopathy, X-linked dominant, 300695 (3) | ?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked dominant | X-linked | X-linked dominant | X-linked recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

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
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Uruguay faciocardiomusculoskeletal syndrome, 300280
  • Emery-Dreifuss muscular dystrophy 6, X-linked, 300696
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
  • Myopathy, X-linked, with postural muscle atrophy, 300696
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
  • Scapuloperoneal myopathy, X-linked dominant, 300695
OMIM
300163
Clinvar variants
Variants in FHL1
Penetrance
None
Publications
Panels with this gene