GCH1

GTP cyclohydrolase 1
OMIM: 600225
PanelMode of inheritanceDetails
8 panels
R-numbers: R56
Signed-off version 1.121
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230
R-numbers: R57
Signed-off version 1.137
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dopa-Responsive Dystonia (DRD), Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, GTP-cyclohydrolase deficiency
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DYSTONIA TYPE 5 128230, GTP CYCLOHYDROLASE 1 DEFICIENCY 233910
R-numbers: R60
Signed-off version 1.27
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia
R-numbers: R61
Signed-off version 2.18
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Dystonia, progressive spastic paraplegia, Spastic paraplegia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910, DYSTONIA TYPE 5 (DYT5)
R-numbers: R58
Signed-off version 2.178
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230, Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910, Spastic paraplegia