Description
At the current time, this panel has been replaced by: https://panelapp.genomicsengland.co.uk/panels/847/  


This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R57 Childhood onset dystonia, chorea or related movement disorder' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R57 Childhood onset dystonia, chorea or related movement disorder'.

This panel is a super panel composed of constituent panels: 'Dystonia - childhood onset', 'Neurological ciliopathies', for the clinical indication 'R57 Childhood onset dystonia, chorea or related movement disorder'. Changes made to this panel will automatically be updated in the relevant constituent panel(s).

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

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

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

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. or the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

249 Entities

76 reviewed, 171 green

List Entity Reviews Mode of inheritance Details
249 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)
AHI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
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)
ARL13B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 8
Tags
Green Green List (high evidence)
ARMC9
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, 617622
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • STR
Green Green List (high evidence)
ATXN3_CAG
STR
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
Green Green List (high evidence)
B9D2
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
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)
C2CD3
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • short-rib polydactyly syndromes (SRPS
  • MIM208500)
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • ?Orofaciodigital syndrome XIV, 615948
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Green Green List (high evidence)
C5orf42
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome 17
Tags
  • new-gene-name
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
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)
CBY1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • cerebellar ataxia
  • molar tooth sign
  • polydactyly
  • Joubert syndrome
Tags
  • gene-checked
Green Green List (high evidence)
CC2D2A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
Tags
Green Green List (high evidence)
CENPF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CEP104
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green Green List (high evidence)
CEP290
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
Tags
Green Green List (high evidence)
CEP41
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 15
Tags
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)
CRB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Meckel syndrome
  • Joubert syndrome 21
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
CSTB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
  • Unverricht-Lundborg syndrome MONDO:0009698
Tags
Green Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
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)
DDX59
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green Green List (high evidence)
DHCR7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
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)
EVC
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome, OMIM:225500
Tags
Green Green List (high evidence)
EVC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrofacial dysostosis, 193530
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)
GLI3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Tags
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)
HYLS1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
Tags
Green Green List (high evidence)
ICK
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
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)
IFT74
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 40, OMIM:619582
  • Joubert syndrome 40, MONDO:0030462
Tags
Green Green List (high evidence)
INPP5E
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Green Green List (high evidence)
Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37468-Loss
Region
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Other
  • Expert Review Green
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
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)
KIAA0586
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 23
  • Joubert syndrome
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Short-rib dysplasia 14 with polydactyly
Tags
Green Green List (high evidence)
KIAA0753
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome XV 617127
Tags
Green Green List (high evidence)
KIF7
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
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)
LAMA1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Poretti-Boltshauser syndrome OMIM:615960
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Tags
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)
MKS1
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • occipital encephalocele
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Joubert syndrome 28
  • 249000
  • polydactyly
  • polycystic kidneys
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • renal fibrosis
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)
NPHP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 4
  • Senior-Loken syndrome
  • 256100 Senior-Loken syndrome-1, 266900
  • 609583 Nephronophthisis 1, juvenile
  • Nephronophthisis
Tags
Green Green List (high evidence)
NPHP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • Senior-Loken syndrome
  • Nephronophthisis 3, 604387
  • Meckel syndrome 7, 267010
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
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)
OFD1
2 reviews
1 green 		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
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
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)
PIBF1
6 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 33, OMIM:617767
  • ataxia
  • vermis hypoplasia
  • developmental delay
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
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)
PMM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
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)
RPGRIP1L
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Joubert syndrome
  • Meckel syndrome
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
SCLT1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
  • No OMIM phenotype
Tags
  • gene-checked
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)
SUFU
5 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 32, OMIM:617757
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Green Green List (high evidence)
TCTN1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
Tags
Green Green List (high evidence)
TCTN2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 24
  • Joubert syndrome, Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
TCTN3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
  • Joubert syndrome 18
  • Meckel-Gruber
  • Mohr-Majewski syndrome
Tags
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)
TMEM107
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome 13 617562
  • ?Joubert syndrome 29 617562
  • Orofaciodigital syndrome XVI 617563
Tags
Green Green List (high evidence)
TMEM138
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Tags
Green Green List (high evidence)
TMEM216
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Tags
Green Green List (high evidence)
TMEM218
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 39, OMIM:619562
Tags
  • gene-checked
Green Green List (high evidence)
TMEM231
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 20
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
Tags
Green Green List (high evidence)
TMEM237
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14
Tags
Green Green List (high evidence)
TMEM67
6 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • nephronophthisis
  • COACH syndrome
  • Joubert syndrome 6
  • ?Bardet-Biedl syndrome?
  • Senior-Boichis syndrome
  • 613550
  • 607361
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • 610688
  • Nephronophthisis 11
  • 216360
Tags
Green Green List (high evidence)
TOGARAM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 37, OMIM:619185
  • Joubert syndrome 37, MONDO:0030933
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)
TXNDC15
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • MGS
  • Meckel-Gruber syndrome
Tags
  • gene-checked
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)
VPS13B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cohen syndrome, 216550
  • COHEN SYNDROME
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
Green Green List (high evidence)
ZSWIM6
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
Amber Amber List (moderate evidence)
ARL3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 35, OMIM:61816
Tags
  • watchlist
Amber Amber List (moderate evidence)
CIZ1
0 reviews
 Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Dystonia 23, 614860
Tags
Amber Amber List (moderate evidence)
EXOC3L2
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Dandy-Walker malformation
  • enlarged echogenic kidneys
  • echogenic kidneys
  • hydrocephalus
  • anhydramnios
Tags
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
FAM149B1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome
  • oral-facial-digital syndrome
  • OFD VI
Tags
  • gene-checked
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)
POC1B
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
Phenotypes
  • Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
  • Joubert Syndrome
  • Senior-Loken Syndrome
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
Amber Amber List (moderate evidence)
ZNF423
4 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Joubert syndrome 19, OMIM:614844
  • Nephronophthisis 14, OMIM:614844
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)
B9D1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
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)
CCDC28B
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Joubert syndrome, MONDO:0018772
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)
EXOC8
1 review
1 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
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)
KIAA0556
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Joubert syndrome 26
Tags
  • new-gene-name
Red Red List (low evidence)
KIF14
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meckel syndrome 12, OMIM:616258
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Tags
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)
PDE6D
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Joubert syndrome 22
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
  • ?Joubert syndrome 22, 615665
Tags
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)
RABL2A
1 review
1 red 		Unknown
Sources
  • Literature
Phenotypes
  • neural tube defects
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)
TAPT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Tags
Red Red List (low evidence)
TBC1D32
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Tags
  • gene-checked
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
Red Red List (low evidence)
WDR63
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • occipital encephalocele and inconsistent brain lobulation
  • ciliopathy-like disorder
Tags
  • new-gene-name

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