Fetal anomalies
Gene: TKT

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Short Stature, Developmental Delay, and Congenital Heart Defects
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

Short Stature, Developmental Delay, and Congenital Heart Defects

OMIM

606781

Clinvar variants

Variants in TKT

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TKT was added gene: TKT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects

Fetal anomalies Gene: TKT