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Arthrogryposis

Gene: FHL1

Red List (low 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene is associated with a range of progressive muscle disorders of variable age of onset, but contractures are generally not congenital.
Created: 11 Jul 2020, 7:31 a.m. | Last Modified: 11 Jul 2020, 7:31 a.m.
Panel Version: 0.129

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

Phenotypes
Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696; Myopathy, X-linked, with postural muscle atrophy, MIM# 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718; Scapuloperoneal myopathy, X-linked dominant, MIM# 300695

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
  • Myopathy, X-linked, with postural muscle atrophy, MIM# 300696
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718
  • Scapuloperoneal myopathy, X-linked dominant, MIM# 300695
OMIM
300163
Clinvar variants
Variants in FHL1
Penetrance
None
Panels with this gene

History Filter Activity

11 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fhl1 has been classified as Red List (Low Evidence).

11 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FHL1 were changed from to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696; Myopathy, X-linked, with postural muscle atrophy, MIM# 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718; Scapuloperoneal myopathy, X-linked dominant, MIM# 300695

11 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FHL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

11 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fhl1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FHL1 was added gene: FHL1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FHL1 was set to Unknown