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  2. Malignant Hyperthermia Susceptibility
  3. ATP2A1
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Malignant Hyperthermia Susceptibility

Gene: ATP2A1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

In a study of 40 Brody disease cases, 3 unrelated cases with biallelic variants had positive in vitro contracture tests on muscle biopsy, and 2 of these cases had episode(s) of suspected MH following administration of general anaesthetics. An additional case experienced several episodes of unexplained hyperthermia, but had not undergone IVCT. 8 other cases reported in the cohort have undergone general anaesthesia without any adverse reactions.
Sources: Literature
Created: 29 Jan 2021, 2:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody myopathy MIM#601003

Publications

Created: 29 Jan 2021, 2:53 a.m.

Panel version: 1.2

Details

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

History Filter Activity

29 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Jan 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP2A1 was added gene: ATP2A1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature 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