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Intellectual disability

Gene: TKT

Amber List (moderate evidence)

TKT (transketolase)
EnsemblGeneIds (GRCh38): ENSG00000163931
EnsemblGeneIds (GRCh37): ENSG00000163931
OMIM: 606781, Gene2Phenotype
TKT is in 3 panels

1 review

Catherine Snow (Genomics England)

Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

TKT relevant phenotype identified in OMIM and is probable in G2P although no phenotypes have been assigned to the entry.

Boyle et al (PMID: 27259054)reported on 5 individuals from 3 families.
Family 1 with two siblings have a c.633G>A, p.Trp211Ter and c.952C >T, p.Arg318Cys in TKT.

Family 2 and family 3 although unrelated are Ashkenazi Jewish descent have the same variant identified as c.769_770ins18, p.Trp257delinsSerThrSerLeuSerSerGly suggesting a Founder effect.

Currently classifying TKT as Amber and have added to the watchlist for further evidence.
Created: 30 May 2019, 3:29 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
  • Short stature, developmental delay, and congenital heart defects, 617044
Clinvar variants
Variants in TKT
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: TKT.

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene TKT was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: TKT was added gene: TKT was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: TKT was set to Publications for gene: TKT were set to 27259054; 30914295 Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects, 617044