Congenital myopathy
Gene: MYF6EnsemblGeneIds (GRCh38): ENSG00000111046
EnsemblGeneIds (GRCh37): ENSG00000111046
OMIM: 159991, Gene2Phenotype
MYF6 is in 2 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
mutations in this gene were reported in a single kindred, not enough evidence in my opinionCreated: 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)
Comment on list classification: Insufficient evidence in terms of cases. Also, age of onset from limited evidence is out of range for this panelCreated: 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 myopathyCreated: 26 Jan 2017, 2:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, centronuclear, 3 614408
Publications
- PMID 11053684
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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MYF6 were changed from Centronuclear Myopathy, Dominant; Myopathy, centronuclear, 3, 614408 to Centronuclear Myopathy, Dominant
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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for MYF6 were set to 11053684
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()MYF6 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()MYF6 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services