TKT

transketolase
OMIM: 606781, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber TKT in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Short stature, developmental delay, and congenital heart defects
  • OMIM #617044

Amber TKT in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, developmental delay, and congenital heart defects
  • OMIM #617044

Amber TKT in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Short stature, developmental delay, and congenital heart defects
  • OMIM #617044

Amber TKT in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Short stature, developmental delay, and congenital heart defects
  • OMIM #617044

Amber TKT in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Short stature, developmental delay, and congenital heart defects
  • OMIM #617044