Genomics England

thiamin pyrophosphokinase 1

Panel	Mode of inheritance	Details
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Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.39	BIALLELIC, autosomal or pseudoautosomal	Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458, childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761