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 7 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

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

Details

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

History Filter Activity

12 Aug 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FAM111B were changed from Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3) to Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for FAM111B were set to 24268661

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for FAM111B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FAM111B was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen