TH

tyrosine hydroxylase
OMIM: 191290
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 1.137
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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA 605407
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Early onset dystonia, Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines), Parkinson Disease and Complex Parkinsonism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA