Genomics England

GCH1

GTP cyclohydrolase 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dystonia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.34	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
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.0	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 Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Dystonia, progressive spastic paraplegia, Spastic paraplegia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes DYSTONIA TYPE 5 128230, GTP CYCLOHYDROLASE 1 DEFICIENCY 233910
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910, DYSTONIA TYPE 5 (DYT5)
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia