Hereditary ataxia

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

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from expert reviewer and OMIM
Created: 4 Feb 2016, 2:12 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Good evidence in literature
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Neuropathy, Ataxia, and Retinitis Pigmentosa

History Filter Activity

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MT-ATP6 was changed to MITOCHONDRIAL

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-ATP6 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-ATP6 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,UKGTN