Congenital myopathy
Gene: ATP2A1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brody Myopathy; Brody myopathy, 601003
Comment when marking as ready: Phenotype not consistent with inclusion criteriaCreated: 2 Feb 2017, 10:49 a.m.
Comment on list classification: Discussion with Ellie McDonagh: three families considered sufficient evidence for causation, however the phenotype (later onset muscle cramping on exercise) is not consistent with the inclusion criteria, unless further evidence of younger onset of weakness emerges.Created: 2 Feb 2017, 10:46 a.m.
I can only find evidence of three separate families with compound heterozygous or homozygous truncating mutations within ATP2A1. Therefore currently considered red.Created: 23 Jan 2017, 4:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brody myopathy
Phenotypes for gene: ATP2A1 were changed from Brody Myopathy; Brody myopathy, 601003 to Brody myopathy, OMIM:601003
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).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for ATP2A1 was changed to BIALLELIC, autosomal or pseudoautosomal
ATP2A1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
ATP2A1 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory
ATP2A1 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services