Congenital myopathy
Gene: FHL1
Comment on list classification: changed from Green to Red- it was felt this gene was better placed on the CMD panel, R79Created: 4 Dec 2019, 12:43 p.m. | Last Modified: 4 Dec 2019, 12:43 p.m.
Panel Version: 1.204
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: 3 Dec 2019, 3:11 p.m. | Last Modified: 3 Dec 2019, 3:12 p.m.
Panel Version: 1.202
gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off
Sources: Expert ReviewCreated: 3 Dec 2019, 3:11 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
Source NHS GMS was added to FHL1.
Gene: fhl1 has been classified as Red List (Low Evidence).
Gene: fhl1 has been classified as Green List (High Evidence).
gene: FHL1 was added gene: FHL1 was added to Congenital myopathy. 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