TPK1

thiamin pyrophosphokinase 1
OMIM: 606370
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458