TH

tyrosine hydroxylase
OMIM: 191290, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TH in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Segawa syndrome, recessive, 605407 Tyrosine Hydroxylase Deficiency DOPA-responsive dystonia Tags treatable
Green TH in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Segawa syndrome, recessive, 605407 paediatric form of dopa responsive dystonia infantile parkinsonism
Green TH in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Segawa syndrome, recessive, 605407 paediatric form of dopa responsive dystonia Segawa syndrome DOPA-responsive dystonia Tags treatable
Red TH in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Segawa syndrome DOPA-responsive dystonia infantile parkinsonism Segawa syndrome, recessive, 605407 paediatric form of dopa responsive dystonia Tags treatable
Amber TH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines) Early onset dystonia Intellectual disability Parkinson Disease and Complex Parkinsonism
Green TH 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines) Parkinson Disease and Complex Parkinsonism Tags treatable
Red TH in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes DOPA-RESPONSIVE DYSTONIA
Green TH in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DOPA-RESPONSIVE DYSTONIA 605407
Green TH 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	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes DOPA-RESPONSIVE DYSTONIA
Red TH 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Segawa syndrome paediatric form of dopa responsive dystonia infantile parkinsonism DOPA-responsive dystonia Segawa syndrome, recessive, 605407
Green TH 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	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes DOPA-responsive dystonia Segawa syndrome, recessive, 605407 Tyrosine Hydroxylase Deficiency Segawa syndrome paediatric form of dopa responsive dystonia