Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: TPK1

Red List (low evidence)

TPK1 (thiamin pyrophosphokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000196511
EnsemblGeneIds (GRCh37): ENSG00000196511
OMIM: 606370, Gene2Phenotype
TPK1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Encephalopathic episodes with progressive neurological deterioration rather than ID.
Created: 1 Mar 2020, 8:56 a.m. | Last Modified: 1 Mar 2020, 8:56 a.m.
Panel Version: 0.2324

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458
OMIM
606370
Clinvar variants
Variants in TPK1
Penetrance
None
Panels with this gene

History Filter Activity

1 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458

1 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPK1 was added gene: TPK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TPK1 was set to Unknown