Skeletal Muscle Channelopathies

Gene: MT-ATP6

Green List (high evidence)

MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 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, 1:51 p.m.
This gene was suggested by expert Dr Matthews, as can cause an overlapping phenotype
Created: 21 Feb 2017, 1:31 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-ATP6 was created by arianna

21 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

MT-ATP6 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert Review