TPK1:Ensemblv115

thiamin pyrophosphokinase 1
OMIM: 606370, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TPK1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458
Green TPK1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TPK1 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Dystonia
Green TPK1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
Green TPK1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
Green TPK1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 Tags treatable metabolic