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

1 review

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
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