1. Panels
  2. Skeletal muscle channelopathy
  3. MT-ATP8
STRs in panel
Prev Next
Regions in panel
Prev Next

Skeletal muscle channelopathy

Gene: MT-ATP8

Green List (high evidence)
MT-ATP8 (mitochondrially encoded ATP synthase 8)
EnsemblGeneIds (GRCh38): ENSG00000228253
EnsemblGeneIds (GRCh37): ENSG00000228253
OMIM: 516070, Gene2Phenotype
MT-ATP8 is in 7 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Can resemble skeletal muscle channelopathy

Publications

  • Aure et al 2013 Neurology 81, 1810-8 PMID:24153443

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Oct 2019, 12:31 p.m.
Last Modified: 25 Oct 2019, 12:31 p.m.
Panel version: 0.15

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • London North GLH
Phenotypes
  • Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Tags
gene-checked
OMIM
516070
Clinvar variants
Variants in MT-ATP8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MT-ATP8 were changed from Can resemble skeletal muscle channelopathy to Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency

18 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.

12 Sep 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: MT-ATP8.

25 Oct 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MT-ATP8 were changed from to 24153443

25 Oct 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MT-ATP8.

25 Oct 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Can resemble skeletal muscle channelopathy for gene: MT-ATP8

25 Oct 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MT-ATP8. Rating Changed from Red List (low evidence) to Green List (high evidence)

25 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MT-ATP8 was added gene: MT-ATP8 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL