Skeletal Muscle Channelopathies

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

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

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

MT-ATP8 was created by arianna

21 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

MT-ATP8 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert Review