1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. ATP2A1
STRs in panel
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Congenital muscular dystrophy and 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 6 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

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.18

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

Created: 23 Jan 2017, 4:32 p.m.

Copied from panel: Congenital myopathy v3.18

Details

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

History Filter Activity

3 Feb 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: ATP2A1 was added gene: ATP2A1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Emory Genetics Laboratory,Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP2A1 were set to Brody myopathy, OMIM:601003 Penetrance for gene: ATP2A1 were set to Complete