Arthrogryposis
Gene: FHL1
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
Gene: fhl1 has been classified as Red List (Low Evidence).
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
Mode of inheritance for gene: FHL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: fhl1 has been classified as Red List (Low Evidence).
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