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Childhood onset dystonia, chorea or related movement disorder

Gene: MT-ND1

No list
MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 10 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, 3:11 p.m. | Last Modified: 18 Aug 2020, 3:52 p.m.
Panel Version: 1.45
Created: 18 Aug 2020, 3:11 p.m.
Last Modified: 18 Aug 2020, 3:52 p.m.
Panel version: 1.11

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-ND1.

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-ND1.

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: MT-ND1.

18 Aug 2020, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mt-nd1 has been removed from the panel.

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MT-ND1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 to MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MT-ND1 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-ND1 was added gene: MT-ND1 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-ND1 was set to MITOCHONDRIAL