Mitochondrial disorders
Gene: TPK1
TPK1 (thiamin pyrophosphokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000196511
EnsemblGeneIds (GRCh37): ENSG00000196511
OMIM: 606370, Gene2Phenotype
TPK1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000196511
EnsemblGeneIds (GRCh37): ENSG00000196511
OMIM: 606370, Gene2Phenotype
TPK1 is in 10 panels
3 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on OMIM.Created: 12 Feb 2016, 5:07 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 5:07 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
- OMIM
- 606370
- Clinvar variants
- Variants in TPK1
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TPK1. Panel: Mitochondrial disorders
12 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
12 Feb 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TPK1 was changed to BIALLELIC, autosomal or pseudoautosomal
12 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TPK1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen