Paroxysmal central nervous system disorders
Gene: MT-ATP8

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

3 reviews

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

Red List (low evidence)

Created: 2 Sep 2019, 2:37 p.m.
Last Modified: 2 Sep 2019, 2:37 p.m.
Panel version: 0.25

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted MT-ATP8 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 3:04 p.m. | Last Modified: 9 Sep 2019, 3:04 p.m.

Panel Version: 0.54

Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.

Panel Version: 0.26

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.

Panel Version: 0.23

Created: 2 Sep 2019, 1:39 p.m.
Last Modified: 2 Sep 2019, 1:39 p.m.
Panel version: 0.26

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not paroxysmal? Not relevant
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.

Panel Version: 0.22

Mode of inheritance
MITOCHONDRIAL

Created: 2 Sep 2019, 1:30 p.m.
Last Modified: 2 Sep 2019, 1:30 p.m.
Panel version: 0.22

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Red
NHS GMS
London North GLH
Wessex and West Midlands GLH

OMIM

516070

Clinvar variants

Variants in MT-ATP8

Penetrance

None

Panels with this gene

History Filter Activity

18 Oct 2023, Gel status: 1

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: 1

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.

24 Sep 2019, Gel status: 1