List of diseases covered by
Dystonia NGS panel

Gene Condition
ACTB Dystonia, juvenile-onset; Baraitser-Winter syndrome 1
ADCY5 Dyskinesia, familial, with facial myokymia
ANO3 Dystonia 24
ARSA Metachromatic leukodystrophy
ATM Ataxia-telangiectasia
ATP1A3 Dystonia-12; Alternating hemiplegia of childhood 2; CAPOS syndrome
ATP7B Wilson disease
CACNA1B Dystonia 23
COL6A3 Dystonia 27; Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
GCDH Glutaricaciduria, type I
GCH1 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;
Hyperphenylalaninemia, BH4-deficient, B
GNAL Dystonia 25
GNAO1 Neurodevelopmental disorder with involuntary movements;
Epileptic encephalopathy, early infantile, 17
HPCA Dystonia 2, torsion, autosomal recessive
KCNMA1 Cerebellar atrophy, developmental delay, and seizures;
Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy
KCTD17 Dystonia 26, myoclonic
KMT2B Dystonia 28, childhood-onset
MECR Dystonia, childhood-onset,
with optic atrophy and basal ganglia abnormalities
PANK2 HARP syndrome; Neurodegeneration with brain iron accumulation 1
PLA2G6 Infantile neuroaxonal dystrophy 1;
Neurodegeneration with brain iron accumulation 2B;
Parkinson disease 14, autosomal recessive
PNKD Paroxysmal nonkinesigenic dyskinesia 1
PRKN Parkinson disease, juvenile, type 2
PRKRA Dystonia 16
PRRT2 Episodic kinesigenic dyskinesia 1;
Convulsions, familial infantile, with paroxysmal choreoathetosis;
Seizures, benign familial infantile, 2
RELN Lissencephaly 2 (Norman-Roberts type); Epilepsy, familial temporal lobe, 7
SGCE Dystonia-11, myoclonic
SLC2A1 Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Epilepsy, idiopathic generalized, susceptibility to, 12
SLC6A3 Parkinsonism-dystonia, infantile
SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria
SLC30A10 Hypermanganesemia with dystonia 1
SLC39A14 Hypermanganesemia with dystonia 2
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
TAF1 Dystonia-Parkinsonism, X-linked;
Mental retardation, X-linked, syndromic 33
TBCE Encephalopathy, progressive,
with amyotrophy and optic atrophy;
Hypoparathyroidism-retardation-dysmorphism syndrome;
Kenny-Caffey syndrome, type 1
TH Segawa syndrome, recessive
THAP1 Dystonia 6, torsion
TIMM8A Mohr-Tranebjaerg syndrome
TOR1A Dystonia-1, torsion
TUBB4A Dystonia 4, torsion, autosomal dominant;
Leukodystrophy, hypomyelinating, 6