PTS

6-pyruvoyltetrahydropterin synthase
OMIM: 612719
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 4.3
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, A, 261640
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
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
Intellectual disability, 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism), Hyperphenylalaninemia, BH4-deficient, A 261640