GCH1

GTP cyclohydrolase 1
OMIM: 600225, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green GCH1 in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.11	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230 Dopa-responsive dystonia Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910 GTP-cyclohydrolase deficiency Tags treatable
Green GCH1 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Hyperphenylalaninemia, BH4-deficient, B, 233910 Dopa-Responsive Dystonia (DRD) Dopa-Responsive Dystonia (DRD)
Green GCH1 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Hyperphenylalaninemia, BH4-deficient, B, 233910 Dopa-Responsive Dystonia (DRD)
Amber GCH1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Dystonia Spastic paraplegia progressive spastic paraplegia Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
Green GCH1 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Literature Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Dystonia progressive spastic paraplegia Spastic paraplegia
Green GCH1 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH South West GLH North West GLH Expert Review Green NHS GMS London North GLH Phenotypes Dystonia progressive spastic paraplegia Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Spastic paraplegia
Green GCH1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230 Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910 Spastic paraplegia
Green GCH1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230 Hyperphenylalaninemia, BH4-deficient, B 233910
Green GCH1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
Red GCH1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes GTP CYCLOHYDROLASE 1 DEFICIENCY DYSTONIA TYPE 5
Green GCH1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSTONIA TYPE 5 128230 GTP CYCLOHYDROLASE 1 DEFICIENCY 233910
Amber GCH1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, B, 233910 seizures
Green GCH1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910 DYSTONIA TYPE 5 (DYT5)
Green GCH1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230
Green GCH1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Dopa-Responsive Dystonia (DRD) Hyperphenylalaninemia, BH4-deficient, B, 233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 GTP-cyclohydrolase deficiency