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  3. MT-ATP6
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Childhood onset dystonia, chorea or related movement disorder

Gene: MT-ATP6

No list
MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from green to grey.
Created: 18 Aug 2020, 3:08 p.m. | Last Modified: 18 Aug 2020, 3:51 p.m.
Panel Version: 1.45
Created: 18 Aug 2020, 3:08 p.m.
Last Modified: 18 Aug 2020, 3:51 p.m.
Panel version: 1.9

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

Green List (high evidence)

mitochondrial - suggested inclusion by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

18 Oct 2023, Gel status: 0

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-ATP6.

12 Sep 2023, Gel status: 0

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-ATP6.

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: MT-ATP6.

18 Aug 2020, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mt-atp6 has been removed from the panel.

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MT-ATP6 were changed from to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-ATP6 was added gene: MT-ATP6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL