Rhabdomyolysis and Metabolic Myopathy

Gene: ATP2A1

Green List (high evidence)

ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)
EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 6 panels

4 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

PMID: 32040565 - review of 40 patients with delayed relaxation after repetitive contractions, no atrophy, muscle strength preserved.
- Creatine kinase elevated/normal.
- Age of onset listed as child/1st decade of life for almost all patients.
- Muscle hypertrophy reported in 38% of patients, and muscle weakness in only 9%.
- Three patients were also reported with malignant hyperthermia following administration of general anaesthetics. RYR1 checked, no mutations found. Additional eight patients administered GA with no effects.
- Two patients reported with rhabdomyolysis
Created: 19 May 2022, 11:28 p.m. | Last Modified: 19 May 2022, 11:28 p.m.
Panel Version: 0.14647

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody myopathy, OMIM # 601003

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two patients reported with rhabdomyolysis
Sources: Expert list
Created: 15 Jun 2020, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody myopathy, MIM# 601003

Publications

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Two patients reported with rhabdomyolysis
Created: 15 Jun 2020, 12:29 a.m. | Last Modified: 15 Jun 2020, 12:29 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody myopathy 601003

Publications

Sebastian Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Overview article covering 18 previously published and 22 new patients with a wide range of homozygous and compound het LoF variants. Muscle related presentations varied, but generally shared muscle stiffness with or without excercise. Muscle weakness identified in about 1/3 of patients.
Created: 20 Apr 2020, 4:58 a.m. | Last Modified: 20 Apr 2020, 4:58 a.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Brody myopathy, MIM# 601003
OMIM
108730
Clinvar variants
Variants in ATP2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp2a1 has been classified as Green List (High Evidence).

15 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2a1 has been classified as Amber List (Moderate Evidence).

15 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2a1 has been classified as Amber List (Moderate Evidence).

15 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP2A1 was added gene: ATP2A1 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP2A1 were set to 32040565 Phenotypes for gene: ATP2A1 were set to Brody myopathy, MIM# 601003 Review for gene: ATP2A1 was set to AMBER