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  2. Congenital muscular dystrophy and congenital myopathy
  3. FAM111B
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Congenital muscular dystrophy and congenital myopathy

Gene: FAM111B

Red List (low evidence)
FAM111B (family with sequence similarity 111 member B)
EnsemblGeneIds (GRCh38): ENSG00000189057
EnsemblGeneIds (GRCh37): ENSG00000189057
OMIM: 615584, Gene2Phenotype
FAM111B is in 5 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.39

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Muscle phenotype observed in >4 cases from different families however, age of onset after infancy and other main presenting features are poikiloderma and contractures
Created: 3 Feb 2017, 11:57 a.m.
Muscle phenotype observed in >4 cases from different families however, age of onset 1-11years and presents with poikiloderma and contractures so not typical for congenital myopathy.
Created: 30 Jan 2017, 4:07 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704

Publications

Created: 30 Jan 2017, 4:07 p.m.

Copied from panel: Congenital myopathy v3.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704
OMIM
615584
Clinvar variants
Variants in FAM111B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: FAM111B was added gene: FAM111B was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAM111B were set to 24268661 Phenotypes for gene: FAM111B were set to Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704 Penetrance for gene: FAM111B were set to Complete