PTS

6-pyruvoyltetrahydropterin synthase
OMIM: 612719
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-Pyruvoyltetrahydropterin Synthase Deficiency, Dystonia, 6-Pyruvoyl-tetrahydropterin synthase deficiency, Hyperphenylalaninemia, BH4-deficient, A, 261640
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, A, 261640
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism), Hyperphenylalaninemia, BH4-deficient, A 261640
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY