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Cardiomyopathies - including childhood onset

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 13 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: MOI changed to match that in Hypertrophic cardiomyopathy - teen and adult panel (code: 49, version 1.90).
Created: 2 Dec 2019, 4:28 p.m. | Last Modified: 2 Dec 2019, 4:28 p.m.
Panel Version: 0.26
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high 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.
Schessl J Clin Invest. 2008 Mar;118(3):904-12. and Knoblauch Ann Neurol. 2010 Jan;67(1):136-40. doi: 10.1002/ana.21839. Report late childhood onset disease with cardiac features including HCM. Knoblauch reports a multigeneration family where age of onset was ,10 years of age. Hartmannova Circ Cardiovasc Genet. 2013;6:543-551: multigenerational family with HCM and a frameshift variants - age of onset teens.
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

Eleanor Williams (Genomics England Curator)

Note: no phenotype in the source panel of Hypertrophic cardiomyopathy - teen and adult.
Created: 23 Jan 2019, 11:18 a.m.

History Filter Activity

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FHL1.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Ivone Leong (Genomics England Curator)

gene: FHL1 was added gene: FHL1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091