Congenital myopathy
Gene: MYF6
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
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
Phenotypes for gene: MYF6 were changed from Centronuclear Myopathy, Dominant; Myopathy, centronuclear, 3, 614408 to Centronuclear Myopathy, Dominant
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.
This gene has been classified as Red List (Low Evidence).
Publications for MYF6 were set to 11053684
This gene has been classified as Red List (Low Evidence).
MYF6 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
MYF6 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services