TKT

transketolase
OMIM: 606781, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TKT in Cataract Level 2: Ophthalmological disorders Version 0.631	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature, developmental delay, and congenital heart defects, MIM# 617044
Amber TKT in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.529	1 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 1.4541	1 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 1.699	2 reviews	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 1.99	1 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 1.542	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Short stature, developmental delay, and congenital heart defects OMIM #617044