1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. MYF6
STRs in panel
Prev Next

Congenital muscular dystrophy and congenital myopathy

Gene: MYF6

Red List (low evidence)
MYF6 (myogenic factor 6)
EnsemblGeneIds (GRCh38): ENSG00000111046
EnsemblGeneIds (GRCh37): ENSG00000111046
OMIM: 159991, Gene2Phenotype
MYF6 is in 2 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

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

Copied from panel: Congenital myopathy v3.68

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

Created: 26 Jan 2017, 2:43 p.m.

Copied from panel: Congenital myopathy v3.68

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
OMIM
159991
Clinvar variants
Variants in MYF6
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: MYF6 was added gene: MYF6 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: MYF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYF6 were set to 11053684 Phenotypes for gene: MYF6 were set to Centronuclear Myopathy, Dominant Penetrance for gene: MYF6 were set to Complete