rs146170087
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI.
|
30088953 |
2018 |
rs121917763
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
|
24753243 |
2014 |
rs121917763
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
|
23480488 |
2013 |
rs121917763
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
|
20430833 |
2010 |
rs121917763
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Tyrosine hydroxylase deficiency with severe clinical course.
|
19282209 |
2009 |
rs121917763
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
|
12891655 |
2003 |
rs121917763
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism.
|
10661862 |
1999 |
rs121917763
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
|
8817341 |
1996 |
rs121917763
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Magnetic stimulation of the nervous system.
|
2019643 |
1991 |
rs146170087
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs1447313633
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
|
31036918 |
2019 |
rs1559296368
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
|
31036918 |
2019 |
rs531630376
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
|
30459466 |
2019 |
rs546151500
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
|
31036918 |
2019 |
rs771610752
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.
|
28087438 |
2017 |
rs139455627
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
|
27736875 |
2016 |
rs1569151872
|
|
AA |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
|
27736875 |
2016 |
rs797045055
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
rs879253799
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.
|
26612766 |
2016 |
rs80338892
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
|
26276013 |
2015 |
rs63750687
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
rs748787734
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
|
24785942 |
2014 |
rs80338892
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
|
24753243 |
2014 |
rs104893665
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Very early pattern of movement disorders in sepiapterin reductase deficiency.
|
24212389 |
2013 |
rs104893665
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
|
23430877 |
2012 |