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Childhood onset dystonia or chorea or related movement disorder

Gene: MT-RNR1

No list

MT-RNR1 (mitochondrially encoded 12S RNA)
EnsemblGeneIds (GRCh38): ENSG00000211459
EnsemblGeneIds (GRCh37): ENSG00000211459
OMIM: 561000, Gene2Phenotype
MT-RNR1 is in 8 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 red to grey.
Created: 18 Aug 2020, 3:37 p.m. | Last Modified: 18 Aug 2020, 3:57 p.m.
Panel Version: 1.45

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

Red List (low evidence)

mitochondrial
Created: 9 Jul 2019, 4:25 p.m. | Last Modified: 9 Jul 2019, 4:25 p.m.
Panel Version: 0.9

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: MT-RNR1.

18 Aug 2020, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mt-rnr1 has been removed from the panel.

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-RNR1 was added gene: MT-RNR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL