Congenital myopathy
Gene: MYOT
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920
Publications
Comment when marking as ready: Only adult phenotype identified from reviewCreated: 3 Feb 2017, 11:02 a.m.
Comment on list classification: Adult phenotype. Not in age range for this panel.Created: 3 Feb 2017, 11:01 a.m.
All three associated phenotypes are associated with adult onset of symptoms, therefore not appropriate for congenital myopathy panel.Created: 26 Jan 2017, 2:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920
Publications
Phenotypes for gene: MYOT were changed from Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
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).
Phenotypes for MYOT were set to Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920
Publications for MYOT were set to 15111675
This gene has been classified as Red List (Low Evidence).
MYOT was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
MYOT was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services