Congenital muscular dystrophy

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

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

PMID: 19181672 - 11 patients (9 families) with reducing body myopathy. All patients had progressive muscle weakness with 7/11 having onset <5 years old. Majority had proximal muscle weakness with elevated CK levels. Authors note "we would be hesitant to use the term dystrophic for this myopathy as the mechanisms of cell damage remain to be fully worked out"
p.His123 is a hotspot with recurring de novo missense mutations at this residue.

PMID: 19171836 - 5 patients with reducing body myopathy, 2/5 had fatal infantile forms of disease.

Summary: congenital onset reported, however uncertain if this is as a dystrophy or only myopathy
Created: 24 Jun 2020, 9:08 a.m. | Last Modified: 24 Jun 2020, 9:08 a.m.
Panel Version: 2.4

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Noted causing a very severe early onset condition.
Created: 4 Dec 2019, 12:58 p.m. | Last Modified: 4 Dec 2019, 12:58 p.m.
Panel Version: 1.72
gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off
Sources: Expert Review
Created: 4 Dec 2019, 12:58 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)

Phenotypes
Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718

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
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
OMIM
300163
Clinvar variants
Variants in FHL1
Penetrance
None
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FHL1.

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fhl1 has been classified as Green List (High Evidence).

4 Dec 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: FHL1 was added gene: FHL1 was added to Congenital muscular dystrophy. Sources: Expert Review 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) Phenotypes for gene: FHL1 were set to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Review for gene: FHL1 was set to AMBER