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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: TPK1

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

1 review

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: 0.10

History Filter Activity

9 Jul 2019, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

2 Apr 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TPK1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TPK1 was added gene: TPK1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: TPK1 was set to