Rhabdomyolysis and metabolic muscle disorders
Gene: ATP2A2EnsemblGeneIds (GRCh38): ENSG00000174437
EnsemblGeneIds (GRCh37): ENSG00000174437
OMIM: 108740, Gene2Phenotype
ATP2A2 is in 4 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 5:10 p.m. | Last Modified: 11 Mar 2026, 5:10 p.m.
Panel Version: 5.16
Sarah Leigh (Genomics England Curator)
PMID: 39970126 reports a rare heterozygous missense ATP2A2 (alias symbol: SERCA2) variant (12:110777348G>A, c.1583G>A, p.R528Q) in 14 affected individuals from three unrelated families with recurrent rhabdomyolysis (an unaffected 6 year old child also carried the variant, however, symptoms of rhabdomyolysis may develop as he gets older). Haplotype analysis confirmed that the families were not related. In vitro and in vivo studies suggest that the variant affects ATP2A2 normal function, resulting in abnormal intracellular Ca2+ homeostasis in skeletal muscle, resulting in rhabdomyolysis.
Morphant zebrafish embryos (atp2a2a knockdown) had morphological and functional muscle abnormalities, including a reduced body length and trunk muscle area and a reduced locomotor activity in zebrafish larvae. This phenotype was rescued by wild-type human ATP2A2 mRNA but not variant ATP2A2 mRNA.
Sources: LiteratureCreated: 25 Feb 2025, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dominant rhabdomyolysis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Dominant rhabdomyolysis
- OMIM
- 108740
- Clinvar variants
- Variants in ATP2A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q1_25_ promote_green was removed from gene: ATP2A2.
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: ATP2A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ATP2A2. Source Expert Review Green was added to ATP2A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp2a2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: ATP2A2 was added gene: ATP2A2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Q1_25_ promote_green tags were added to gene: ATP2A2. Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP2A2 were set to 39970126 Phenotypes for gene: ATP2A2 were set to Dominant rhabdomyolysis Review for gene: ATP2A2 was set to GREEN