TKT

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber TKT in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	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 1.2302	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 1.63	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 1.76	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 1.313	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

5 panels