TKT

Panel	Reviews	Mode of inheritance	Details
Filter panels 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

5 panels