Congenital myopathy

Gene: MYF6

Red List (low evidence)

MYF6 (myogenic factor 6)
EnsemblGeneIds (GRCh38): ENSG00000111046
EnsemblGeneIds (GRCh37): ENSG00000111046
OMIM: 159991, Gene2Phenotype
MYF6 is in 3 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

I don't know

mutations in this gene were reported in a single kindred, not enough evidence in my opinion
Created: 6 Mar 2017, 12:14 p.m.

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

Phenotypes
Centronuclear Myopathy, Dominant; Myopathy, centronuclear, 3, 614408

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Insufficient evidence in terms of cases. Also, age of onset from limited evidence is out of range for this panel
Created: 3 Feb 2017, 10:59 a.m.
Only one family; a child with mild symptoms and onset age 9. Father also had the mutation in addition to Becker MD in frame dystrophin deletion but more severe phenotype. Insufficient evidence to suggest causal for congenital myopathy
Created: 26 Jan 2017, 2:43 p.m.

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

Phenotypes
Myopathy, centronuclear, 3 614408

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Centronuclear Myopathy, Dominant
  • Myopathy, centronuclear, 3, 614408
OMIM
159991
Clinvar variants
Variants in MYF6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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 MYF6 were set to 11053684

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).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

MYF6 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MYF6 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services