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  3. TPK1
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Childhood onset dystonia, chorea or related movement disorder

Gene: TPK1

Green List (high evidence)
TPK1 (thiamin pyrophosphokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000196511
EnsemblGeneIds (GRCh37): ENSG00000196511
OMIM: 606370, Gene2Phenotype
TPK1 is in 10 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Red to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH). Reported in multiple families
Created: 12 Dec 2019, 3:41 p.m. | Last Modified: 12 Dec 2019, 3:41 p.m.
Panel Version: 0.258
Created: 12 Dec 2019, 3:41 p.m.
Last Modified: 12 Dec 2019, 3:41 p.m.
Panel version: 0.258

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Kept as Red, as only one patient reported with dystonia, and one Red review.
Created: 6 Dec 2019, 5:21 p.m. | Last Modified: 6 Dec 2019, 5:21 p.m.
Panel Version: 0.23
Created: 6 Dec 2019, 5:21 p.m.
Last Modified: 6 Dec 2019, 5:21 p.m.
Panel version: 0.23

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

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

I don't know

PMID 28431625 descibes 1 patient with childhood onset generalised dystonia.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • London North GLH
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
OMIM
606370
Clinvar variants
Variants in TPK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tpk1 has been classified as Green List (High Evidence).

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: tpk1 has been classified as Red List (Low Evidence).

6 Dec 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TPK1 were set to

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TPK1. Mode of inheritance for gene TPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TPK1 was added gene: TPK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TPK1 was set to