Muscular dystrophy and myopathy_Paediatric

Gene: FAM111B

Green List (high evidence)

FAM111B (family with sequence similarity 111 member B)
EnsemblGeneIds (GRCh38): ENSG00000189057
EnsemblGeneIds (GRCh37): ENSG00000189057
OMIM: 615584, Gene2Phenotype
FAM111B is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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: Other
Created: 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)

Green List (high evidence)

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

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fam111b has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fam111b has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 1

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