×
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
Dystonia
0.500
CausalMutation
CLINVAR
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
Dystonia
0.500
GeneticVariation
CLINVAR
×
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
Dystonia
0.450
CausalMutation
CLINVAR
×
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Dystonia
0.430
GeneticVariation
CLINVAR
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Dystonia
0.430
GeneticVariation
CLINVAR
×
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
Dystonia
0.410
GeneticVariation
CLINVAR
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia .
31036918 2019
×
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
Dystonia
0.410
CausalMutation
CLINVAR
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.
26612766 2016
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Dystonia
0.410
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
C19orf12
Dystonia
0.410
CausalMutation
CLINVAR
×
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
Dystonia
0.400
CausalMutation
CLINVAR
×
Entrez Id: 4541
Gene Symbol: ND6
ND6
Dystonia
0.180
GeneticVariation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545 2016
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Dystonia
0.130
CausalMutation
CLINVAR
×
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
Dystonia
0.100
GeneticVariation
CLINVAR
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
30459466 2019
×
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
Dystonia
0.100
GeneticVariation
CLINVAR
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
27736875 2016
TSPEAR-AS1
Dystonia
0.100
GeneticVariation
CLINVAR
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
27736875 2016
×
Entrez Id: 6697
Gene Symbol: SPR
SPR
Dystonia
0.100
CausalMutation
CLINVAR
Very early pattern of movement disorders in sepiapterin reductase deficiency.
24212389 2013
×
Entrez Id: 6697
Gene Symbol: SPR
SPR
Dystonia
0.100
CausalMutation
CLINVAR
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
23430877 2012
×
Entrez Id: 6697
Gene Symbol: SPR
SPR
Dystonia
0.100
CausalMutation
CLINVAR
Whole-genome sequencing for optimized patient management.
21677200 2011
×
Entrez Id: 6697
Gene Symbol: SPR
SPR
Dystonia
0.100
CausalMutation
CLINVAR
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
21431957 2011
×
Entrez Id: 6697
Gene Symbol: SPR
SPR
Dystonia
0.100
CausalMutation
CLINVAR
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
16917893 2006
×
Entrez Id: 6697
Gene Symbol: SPR
SPR
Dystonia
0.100
CausalMutation
CLINVAR
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
11443547 2001
×
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Dystonia
0.100
CausalMutation
CLINVAR
×
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Dystonia
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
Dystonia
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 4644
Gene Symbol: MYO5A
MYO5A
Dystonia
0.100
CausalMutation
CLINVAR