Muscular dystrophy and myopathy_Paediatric
Gene: FAM111B
Muscle contractures are usually seen in childhood. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs, beginning with the proximal muscles. Serum creatine kinase is either normal or slightly increased and electromyography may show a normal or myopathic pattern. The mechanism of disease is unknown, but based on the spectrum of pathogenic variants it is expected to be dominant-negative.
Sources: OtherCreated: 2 Jun 2023, 1:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Publications
Mode of pathogenicity
Other
Five families reported with a multi-system disorder that includes myopathy.Created: 11 Jun 2020, 8:34 a.m. | Last Modified: 11 Jun 2020, 8:34 a.m.
Panel Version: 0.150
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, MIM# 615704
Publications
Gene: fam111b has been classified as Green List (High Evidence).
Gene: fam111b has been classified as Green List (High Evidence).
gene: FAM111B was added gene: FAM111B was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111B were set to 27748098 Phenotypes for gene: FAM111B were set to Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Mode of pathogenicity for gene: FAM111B was set to Other Review for gene: FAM111B was set to GREEN