Congenital myopathy

Gene: ATP2A1

Red List (low evidence)

ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)
EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 8 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody Myopathy; Brody myopathy, 601003

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Phenotype not consistent with inclusion criteria
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Brody Myopathy
  • Brody myopathy, 601003
OMIM
108730
Clinvar variants
Variants in ATP2A1
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

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.

2 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 Jan 2017, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ATP2A1 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

ATP2A1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ATP2A1 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ATP2A1 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services