Description
This panel is a component of super panel 'Movement disorders - childhood onset'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel has been initially created as a merge of genomic entities from the following 
4 panels: 
Early onset dystonia v1.76
Brain channelopathy v1.46 
Structural basal ganglia disorders v1.10 
Neurotransmitter disorders v1.3

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Philip Dawson (Leadiant Biosciences)

    Group: Other biotech or pharmaceutical
    Workplace: Industry

184 Entities

10 reviewed, 121 green

List Entity Reviews Mode of inheritance Details
184 Entitiess
Green Green List (high evidence)
ADAR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • dystonia
  • Aicardi-Goutieres syndrome 6, 615010
Tags
Green Green List (high evidence)
ADCY5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • dystonia
  • Familial dyskinesia 606703
  • Dyskinesia, familial, with facial myokymia, 606703
Tags
Green Green List (high evidence)
ANO3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • familial form of cranio-cervical dystonia
  • Dystonia 24, 615034
Tags
Green Green List (high evidence)
AP1S2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked syndromic 5 304340
  • Dystonia
Tags
Green Green List (high evidence)
APTX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
ATM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia
  • Ataxia telangiectasia
Tags
Green Green List (high evidence)
ATN1_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR
Green Green List (high evidence)
ATP13A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Parkinson disease
  • Kufor-Rakeb syndrome 606693
  • Dystonia
Tags
Green Green List (high evidence)
ATP1A2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • familial basilar migraine 602481
  • familial hemiplegic migraine type 2, 602481
  • migraine
  • alternating hemiplegia of childhood 104290
  • Dystonia
Tags
  • treatable
Green Green List (high evidence)
ATP1A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dystonia-12, 128235
  • DYSTONIA 12, 128235
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
  • Rapid-Onset Dystonia-Parkinsonism
Tags
  • treatable
Green Green List (high evidence)
ATP7B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Wilson disease 277900
  • Dystonia
Tags
  • treatable
Green Green List (high evidence)
ATXN2_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • STR
Green Green List (high evidence)
ATXN3_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
Green Green List (high evidence)
BCAP31
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
  • DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Tags
Green Green List (high evidence)
BCS1L
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bjornstad syndrome, 262000
  • Leigh syndrome, 256000
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
Tags
Green Green List (high evidence)
C19orf12
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • neurodegeneration with brain iron accumulation-4
  • mitochondrial membrane protein-associated neurodegeneration
  • Dystonia
Tags
Green Green List (high evidence)
CACNA1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • episodic ataxia type 2 (EA2), 108500
  • Dystonia
  • familial hemiplegic migraine type 1, 141500
Tags
  • treatable
Green Green List (high evidence)
CACNA1A_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • STR
Green Green List (high evidence)
CACNB4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
  • EPISODIC ATAXIA, TYPE 5
Tags
  • treatable
Green Green List (high evidence)
CHMP2B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • familial frontotemporal lobar degeneration (ALS17)
  • Dystonia
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Tags
Green Green List (high evidence)
COASY
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • COASY protein-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 6 615643
Tags
Green Green List (high evidence)
COX10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome due to mitochondrial COX4 deficiency, 256000
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Tags
Green Green List (high evidence)
CP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia 604290
  • Aceruloplasminemia
  • [Hypoceruloplasminemia, hereditary] 604290
  • Dystonia
  • Hemosiderosis, systemic, due to aceruloplasminemia 604290
Tags
Green Green List (high evidence)
CSTB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • microcephaly and severe dyskinesia (26843564)
  • Epilepsy, progressive myoclonic 1A, 254800
Tags
Green Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
  • STR
Green Green List (high evidence)
DBH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dopamine beta-hydroxylase deficiency, 223360
Tags
  • treatable
Green Green List (high evidence)
DCAF17
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Woodhouse-Sakati syndrome
  • Dystonia
Tags
Green Green List (high evidence)
DDC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, 608643
  • Dystonia
Tags
Green Green List (high evidence)
DHFR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
  • Dihydrofolate reductase deficiency
Tags
  • treatable
Green Green List (high evidence)
DLAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia
  • Pyruvate dehydrogenase E2 deficiency 245348
Tags
Green Green List (high evidence)
DNAJC12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Tags
  • treatable
Green Green List (high evidence)
ETHE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ethylmalonic encephalopathy 602473
Tags
Green Green List (high evidence)
FA2H
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • fatty acid hydroxylase-associated neurodegeneration
  • Spastic paraplegia 35, autosomal recessive 612319
  • Dystonia
Tags
Green Green List (high evidence)
FBXO7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia
  • juvenile parkinsonism
Tags
Green Green List (high evidence)
FOLR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • Folate receptor alpha deficiency
Tags
  • treatable
Green Green List (high evidence)
FOXP2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Speech-language disorder-1 602081
Tags
Green Green List (high evidence)
FTL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 3 606159
Tags
Green Green List (high evidence)
GCDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
GCH1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GTP-cyclohydrolase deficiency
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Dopa-Responsive Dystonia (DRD)
Tags
  • treatable
Green Green List (high evidence)
GLRA1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Tags
Green Green List (high evidence)
GLRB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperekplexia 2, 614619
Tags
Green Green List (high evidence)
GNAO1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with involuntary movements, 617493
Tags
  • mosaicism
Green Green List (high evidence)
HIBCH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Tags
Green Green List (high evidence)
HPCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 2, torsion, autosomal recessive, 224500
  • generalized dystonia with additional neurological features
  • childhood-onset generalized dystonia
  • adolescence-onset segmental dystonia
Tags
Green Green List (high evidence)
HTRA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
IFIH1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 7 615846
Tags
Green Green List (high evidence)
Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37468-Loss
Region
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • short stature
  • severe intellectual disability
  • lip-smacking
  • exiting behavior
  • autistic features
  • hypotonia
  • stereotypical hand movements
  • eleveated serotonin levels
  • episodes of sudden loss of muscle tone
Tags
Green Green List (high evidence)
ISG15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 38 616126
Tags
Green Green List (high evidence)
IVD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Isovaleric acidemia 243500
Tags
Green Green List (high evidence)
JPH3_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • STR
Green Green List (high evidence)
KCNA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • EPISODIC ATAXIA, TYPE 1
  • myokymia with periodic ataxia
Tags
  • treatable
Green Green List (high evidence)
KCNQ2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myokymia, 121200
  • Dystonia
Tags
Green Green List (high evidence)
KCNQ3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Seizures, benign neonatal, type 2, 121201
Tags
Green Green List (high evidence)
KMT2B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 28, childhood-onset 617284
  • early-onset dystonia
Tags
  • treatable
Green Green List (high evidence)
MAOA
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Brunner syndrome, 300615
  • Monoamine oxidase A deficiency
Tags
Green Green List (high evidence)
MECR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Tags
Green Green List (high evidence)
MT-ATP6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-ND1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-ND6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • Leber Optic Atrophy And Dystonia
Tags
Green Green List (high evidence)
MUT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, mut(0) type 251000
Tags
  • new-gene-name
Green Green List (high evidence)
NDUFA1
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Green Green List (high evidence)
NDUFA10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome 256000
Tags
Green Green List (high evidence)
NDUFAF2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, 618233
Tags
Green Green List (high evidence)
NDUFAF6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Tags
Green Green List (high evidence)
NDUFS4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency 252010
  • Leigh syndrome 256000
Tags
Green Green List (high evidence)
NDUFS7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 3, 618224
Tags
Green Green List (high evidence)
NDUFS8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 2, 618222
Tags
Green Green List (high evidence)
NDUFV1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Green Green List (high evidence)
NKX6-2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
Green Green List (high evidence)
OCLN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria 251290
Tags
Green Green List (high evidence)
PANK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • pantothenate kinase-associated neurodegeneration
  • Dystonia
Tags
Green Green List (high evidence)
PCCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PCCB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PDE10A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Striatal degeneration, autosomal dominant 616922
  • Dyskinesia, limb and orofacial, infantile-onset 616921
Tags
Green Green List (high evidence)
PDGFB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Basal ganglia calcification, idiopathic, 5 615483
Tags
Green Green List (high evidence)
PDGFRB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Basal ganglia calcification, idiopathic, 4 615007
  • Dystonia
Tags
Green Green List (high evidence)
PDHA1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency 312170
Tags
Green Green List (high evidence)
PDP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, 608782
Tags
Green Green List (high evidence)
PINK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Parkinson disease 6, early onset
  • Dystonia
Tags
Green Green List (high evidence)
PLA2G6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PLA2G6-associated neurodegeneration
  • Parkinson disease 14, autosomal recessive 612953
  • Neurodegeneration with brain iron accumulation 2B 610217
  • Infantile neuroaxonal dystrophy 1 256600
Tags
Green Green List (high evidence)
PNKD
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Familial Paroxysmal Nonkinesigenic Dyskinesia
  • PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
  • Paroxysmal nonkinesigenic dyskinesia, 118800
Tags
Green Green List (high evidence)
PRKN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • juvenile parkinsonism/dystonia
  • Dystonia
  • Parkinson disease, juvenile, type 2
Tags
Green Green List (high evidence)
PRKRA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 16, 612067
  • Dystonia
  • early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
Tags
Green Green List (high evidence)
PRNP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cerebral amyloid angiopathy, PRNP-related 137440
  • Huntington disease-like 1 603218
  • Gerstmann-Straussler disease 137440
  • Creutzfeldt-Jakob disease 123400
Tags
Green Green List (high evidence)
PRRT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
  • episodic kinesigenic dyskinesia
  • CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
  • SEIZURES, BENIGN FAMILIAL INFANTILE, 2
  • dystonia and occasionally hemiplegic migraine and epilepsy
  • Episodic kinesigenic dyskinesia 1, 128200
Tags
  • treatable
Green Green List (high evidence)
PTS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 6-Pyruvoyltetrahydropterin Synthase Deficiency
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
  • Dystonia
  • 6-Pyruvoyl-tetrahydropterin synthase deficiency
Tags
  • treatable
Green Green List (high evidence)
QDPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, 261630
  • Dystonia
  • Dihydropteridine reductase deficiency
Tags
Green Green List (high evidence)
RAB39B
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Waisman syndrome 311510
Tags
Green Green List (high evidence)
SCN1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dravet syndrome
  • several epilepsy, convulsion and migraine disorders.
  • familial hemiplegic migraine 3
Tags
Green Green List (high evidence)
SCN8A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • epilepsy
  • paroxysmal kinesigenic dyskinesias
Tags
Green Green List (high evidence)
SDHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1GG, 613642
  • Leigh syndrome, 256000
  • Mitochondrial respiratory chain complex II deficiency, 252011
Tags
Green Green List (high evidence)
SERAC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MEGDEL syndrome
  • Dystonia
  • MEGDHEL syndrome
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • Lesions in the basal ganglia
Tags
Green Green List (high evidence)
SGCE
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
Phenotypes
  • Myoclonus dystonia syndrome
  • Myoclonus-Dystonia
  • maternally imprinted Dystonia-11, myoclonic, 159900
Tags
Green Green List (high evidence)
SLC18A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism)
  • Vesicular monoamine transporter deficiency
Tags
Green Green List (high evidence)
SLC19A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483
  • Dystonia
Tags
Green Green List (high evidence)
SLC1A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • EPISODIC ATAXIA, TYPE 6
Tags
Green Green List (high evidence)
SLC20A2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dystonia
  • Basal ganglia calcification, idiopathic, 1 213600
Tags
Green Green List (high evidence)
SLC25A19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710
  • Microcephaly, Amish type 607196
Tags
Green Green List (high evidence)
SLC2A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • EPILEPSY, IDIOPATHIC GENERALIZED
  • dystonia 9
  • GLUT1 deficiency syndrome 2
  • GLUT1 deficiency syndrome 2, childhood onset
  • Dystonia
  • GLUT1 deficiency syndrome 1, infantile onset, severe
  • GLUT1 deficiency syndrome 1, 606777
  • paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Tags
  • treatable
Green Green List (high evidence)
SLC30A10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Tags
  • treatable
Green Green List (high evidence)
SLC39A14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypermanganesemia with dystonia 2 617013
Tags
Green Green List (high evidence)
SLC6A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • {Nicotine dependence, protection against}, 188890
  • Parkinsonism-dystonia, infantile, 613135
  • Dopamine transporter deficiency
Tags
Green Green List (high evidence)
SLC6A5
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperekplexia 3, 614618
Tags
Green Green List (high evidence)
SPR
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sepiapterin reductase deficiency
  • Dopa-Responsive Dystonia
  • paediatric form of dopa responsive dystonia
  • Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Tags
  • treatable
Green Green List (high evidence)
SUCLA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
SUCLG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Tags
Green Green List (high evidence)
SURF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, type 4K, 616684
  • Leigh syndrome, due to COX IV deficiency, 256000
Tags
Green Green List (high evidence)
SYNJ1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • juvenile Parkinsonism
  • Parkinson disease 20, early-onset
Tags
Green Green List (high evidence)
TBP_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Green Green List (high evidence)
TH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Segawa syndrome
  • paediatric form of dopa responsive dystonia
  • Tyrosine Hydroxylase Deficiency
  • DOPA-responsive dystonia
  • Segawa syndrome, recessive, 605407
Tags
  • treatable
Green Green List (high evidence)
THAP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 6, torsion, 602629
  • Dystonia
Tags
Green Green List (high evidence)
TOR1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dystonia-1, torsion, 128100
  • Early-Onset Primary Dystonia
  • Autosomal dominant or sporadic dystonia (DYT1)
Tags
Green Green List (high evidence)
TUBA1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 3 611603
Tags
Green Green List (high evidence)
TUBB4A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • Dystonia
  • hereditary whispering dysphonia
  • Leukodystrophy, hypomyelinating, 6 612438
Tags
Green Green List (high evidence)
VAC14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054
Tags
Green Green List (high evidence)
VPS13A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • complex parkinsonism
  • Choreoacanthocytosis 200150
Tags
Green Green List (high evidence)
WDR45
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 5 300894
  • Dystonia
  • beta-propeller protein-associated neurodegeneration
Tags
Green Green List (high evidence)
WDR73
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galloway-Mowat syndrome 1, 251300
Tags
Green Green List (high evidence)
XPR1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Basal ganglia calcification, idiopathic, 6 616413
Tags
Green Green List (high evidence)
YY1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Gabriele-de Vries syndrome 617557
Tags
Amber Amber List (moderate evidence)
CIZ1
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Dystonia 23, 614860
Tags
Amber Amber List (moderate evidence)
GFAP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Alexander disease 203450
Tags
Amber Amber List (moderate evidence)
GNAL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Dystonia 25, 615073
Tags
  • watchlist
Amber Amber List (moderate evidence)
KCNK18
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Tags
Amber Amber List (moderate evidence)
TAF1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
Tags
Red Red List (low evidence)
ACTB
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Tags
Red Red List (low evidence)
AFG3L2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
AIFM1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency 6 300816
Tags
  • watchlist
Red Red List (low evidence)
ARSA
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ARX
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ATN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
AUH
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
BDNF
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Central hypoventilation syndrome, congenital 209880
Tags
Red Red List (low evidence)
CYP27A1
1 review
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
DCAF10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DCTN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Neuropathy, distal hereditary motor, type VIIB
Tags
Red Red List (low evidence)
DRD2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia, myoclonic, 159900
Tags
Red Red List (low evidence)
DRD5
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • {Blepharospasm, primary benign}, 606798
Tags
Red Red List (low evidence)
EARS2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ERCC6
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FASTKD2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FOXG1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FOXRED1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
GAMT
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
HEXA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • [Hex A pseudodeficiency] 272800 AR
  • GM2-gangliosidosis, several forms 272800
  • Tay-Sachs disease 272800
Tags
Red Red List (low evidence)
HPRT1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
HTT
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Huntington disease 143100
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
L2HGDH
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MAT1A
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MCOLN1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MMADHC
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MPV17
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MR1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Paroxysmal/Episodic dystonia
  • Dystonia
Tags
Red Red List (low evidence)
NDUFA12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leigh syndrome due to mitochondrial complex 1 deficiency 256000
Tags
Red Red List (low evidence)
NDUFA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
NDUFA9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Tags
Red Red List (low evidence)
NDUFS3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial complex I deficiency 252010
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Tags
Red Red List (low evidence)
NKX2-1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Chorea, hereditary benign 118700
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Tags
Red Red List (low evidence)
NPC2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
NUP62
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Striatonigral degeneration, infantile 271930
Tags
  • founder-effect
  • watchlist
Red Red List (low evidence)
PARK7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset
Tags
Red Red List (low evidence)
PCDH12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • microcephaly
  • epilepsy
  • midbrain abnormalities
  • intellectual disability
  • hypothalamic abnormalities
  • perithalamic hyperechogenicity
  • periventricular hyperechogenicity
Tags
  • founder-effect
Red Red List (low evidence)
PDHX
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PDX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MODY, type IV 606392
  • Pancreatic agenesis 1 260370
Tags
Red Red List (low evidence)
PITX3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Disorders of Dopamine Synthesis Regulation
Tags
Red Red List (low evidence)
PLP1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PNPT1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PSEN1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PTEN
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2A
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2B
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2C
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SAMHD1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SCN9A
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Paroxysmal extreme pain disorder, 167400
  • Congenital Indifference to Pain
  • Paroxysmal Extreme Pain Disorder
  • Hereditary Sensory Neuropathy
  • Febrile seizures, familial, 3B, 613863
  • Dysosteosclerosis
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Insensitivity to pain, channelopathy-associated, 243000
  • Erythermalgia, primary, 133020
  • Erythermalgia, Primary
Tags
Red Red List (low evidence)
SCP2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, 613724
Tags
Red Red List (low evidence)
SDHAF1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SLC46A1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SUOX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
TIMM8A
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Deafness-Dystonia-Optic Neuronopathy Syndrome
Tags
Red Red List (low evidence)
TPK1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
TREM2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
TREX1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
VPS37A
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags

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