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 8 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

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • London North GLH
Phenotypes
  • Can resemble skeletal muscle channelopathy
Tags
gene-checked
OMIM
516070
Clinvar variants
Variants in MT-ATP8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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