Genomics England
GMS Panels
Panels
Genes and Entities

TH

tyrosine hydroxylase
OMIM: 191290
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA 605407
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-responsive dystonia, Segawa syndrome, recessive, 605407, Tyrosine Hydroxylase Deficiency, Segawa syndrome, paediatric form of dopa responsive dystonia
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Early onset dystonia, Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines), Parkinson Disease and Complex Parkinsonism