Congenital Heart Defect
Gene: TKTEnsemblGeneIds (GRCh38): ENSG00000163931
EnsemblGeneIds (GRCh37): ENSG00000163931
OMIM: 606781, Gene2Phenotype
TKT is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Boyle et al. (2016) reported 3 families with 5 affected individuals with proportionate short stature, developmental delay, and congenital heart defects. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division.
Two of the families had the same variant ?founder.
Sources: Expert ReviewCreated: 18 Jan 2022, 4:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, developmental delay, and congenital heart defects; OMIM #617044
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Short stature, developmental delay, and congenital heart defects
- OMIM #617044
- OMIM
- 606781
- Clinvar variants
- Variants in TKT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tkt has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tkt has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TKT was added gene: TKT was added to Congenital Heart Defect. Sources: Expert Review Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKT were set to 27259054 Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects; OMIM #617044 Review for gene: TKT was set to AMBER