Skeletal Muscle Channelopathies
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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Mutations in this gene can cause an overlapping phenotype
Created: 21 Feb 2017, 1:50 p.m.

This gene was suggested by expert Dr Matthews, as can cause overlapping phenotype
Created: 21 Feb 2017, 1:32 p.m.

Mode of inheritance
MITOCHONDRIAL

Created: 21 Feb 2017, 1:32 p.m.

Panel version: 0.54

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Green
Expert Review

Tags

gene-checked

OMIM

516070

Clinvar variants

Variants in MT-ATP8

Penetrance

Complete

Panels with this gene

History Filter Activity

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.

22 Feb 2017, Gel status: 4