TH

tyrosine hydroxylase
OMIM: 191290, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red TH in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services
Green TH in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Tyrosine hydroxylase deficiency MONDO:0100064
Green TH in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Segawa syndrome, recessive MIM#605407
Green TH in Incidentalome Version 0.301	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Expert Review Green
Green TH in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Segawa syndrome, recessive , MIM#605407
Green TH in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Segawa syndrome, recessive MIM#605407 Tags treatable
Green TH in Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Version 1.37 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Segawa syndrome, recessive, MIM# 605407 MONDO:0011551
Green TH in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Segawa syndrome, recessive, 605407 (3)
Green TH in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Tyrosine hydroxylase deficiency
Green TH in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Segawa syndrome, recessive, MIM# 605407
Green TH in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes tyrosine hydroxylase deficiency MONDO:0100064
Green TH in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Tyrosine hydroxylase deficiency, MIM#605407 Tags treatable endocrine
Green TH in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Segawa syndrome, recessive, MIM# 605407