Muscular dystrophy and myopathy_Paediatric
Gene: FAM111BEnsemblGeneIds (GRCh38): ENSG00000189057
EnsemblGeneIds (GRCh37): ENSG00000189057
OMIM: 615584, Gene2Phenotype
FAM111B is in 7 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Expert Review Green
- Phenotypes
-
- Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
- OMIM
- 615584
- Clinvar variants
- Variants in FAM111B
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fam111b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fam111b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)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