Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R56 Adult onset dystonia, chorea or related movement disorder' in the NHS Genomic Medicine Service.

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 'R56 Adult onset dystonia, chorea or related movement disorder'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

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.

This gene list was originally created using genes and their overall ratings from the following gene panels:
- Early onset dystonia (v1.76, code 192)
- Parkinson Disease and Complex Parkinsonism (v1.64, code 39)
- Brain channelopathy (v1.48, code 90)
- Structural basal ganglia disorders (v1.10, code 180)

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Philip Dawson (Leadiant Biosciences)

    Group: Other biotech or pharmaceutical
    Workplace: Industry

  • Emily Jones (North Bristol NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

214 Entities

214 reviewed, 78 green

List Entity Reviews Mode of inheritance Details
214 Entitiess
Green Green List (high evidence)
ACTB
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Tags
Green Green List (high evidence)
AFG3L2
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
ANO3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • familial form of cranio-cervical dystonia
  • Dystonia 24, 615034
Tags
Green Green List (high evidence)
APTX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
ATM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • Ataxia telangiectasia
Tags
Green Green List (high evidence)
ATN1_CAG
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR
Green Green List (high evidence)
ATP13A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinson disease 9, 606693
  • Dystonia
  • Kufor-Rakeb Syndrome
Tags
Green Green List (high evidence)
ATP1A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • familial basilar migraine 602481
  • familial hemiplegic migraine type 2, 602481
  • alternating hemiplegia of childhood 104290
Tags
Green Green List (high evidence)
ATP1A3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • CAPOS syndrome
  • rapid-onset dystonia-parkinsonism
  • alternating hemiplegia of childhood
  • Rapid-Onset Dystonia-Parkinsonism
  • Dystonia-12
Tags
Green Green List (high evidence)
ATP7B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Wilson disease 277900
  • Dystonia
Tags
Green Green List (high evidence)
ATXN1_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
  • STR
Green Green List (high evidence)
ATXN2_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • London North GLH
  • NHS GMS
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
Green Green List (high evidence)
C19orf12
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • neurodegeneration with brain iron accumulation-4
  • mitochondrial membrane protein-associated neurodegeneration
  • Dystonia
Tags
Green Green List (high evidence)
C9orf72_GGGGCC
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Tags
  • STR
Green Green List (high evidence)
CACNA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • familial hemiplegic migraine type 1, 141500
  • episodic ataxia type 2 (EA2),108500
Tags
Green Green List (high evidence)
CACNA1A_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • STR
Green Green List (high evidence)
CHMP2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • familial frontotemporal lobar degeneration (ALS17)
  • Dystonia
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Tags
Green Green List (high evidence)
CP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellar ataxia 604290
  • Aceruloplasminemia
  • Hypoceruloplasminemia, hereditary 604290
  • Dystonia
  • Hemosiderosis, systemic, due to aceruloplasminemia 604290
Tags
Green Green List (high evidence)
CSF1R
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy
  • diffuse leukoencephalopathy with spheroids
Tags
Green Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
  • STR
Green Green List (high evidence)
CYP27A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cerebrotendinous xanthomatosis, CTX, 213700
  • Dystonia
  • Dystonia, including childhood & adult onset
Tags
Green Green List (high evidence)
DCAF17
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Woodhouse-Sakati syndrome
  • Dystonia
Tags
Green Green List (high evidence)
DCTN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Perry syndrome
Tags
Green Green List (high evidence)
DNAJC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinson disease 19a, juvenile-onset
  • Parkinson disease 19, juvenile-onset, 615528
  • Parkinson disease 19b, early-onset
Tags
Green Green List (high evidence)
FBXO7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinson disease 15, autosomal recessive, 260300
  • Parkinson Disease, Recessive
  • Early Onset Complex Disease
  • juvenile parkinsonism
  • Dystonia
  • parkinsonian-pyramidal syndrome
Tags
Green Green List (high evidence)
FTL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodegeneration with brain iron accumulation 3 606159
  • movement disorder
Tags
Green Green List (high evidence)
GBA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • {Parkinson disease, late-onset, susceptibility to}, 168600
Tags
Green Green List (high evidence)
GCH1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Dopa-Responsive Dystonia (DRD)
Tags
Green Green List (high evidence)
GFAP
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Alexander disease 203450
Tags
Green Green List (high evidence)
GNAL
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • adult-onset cranio-cervical dystonia
  • Dystonia 25, 615073
Tags
Green Green List (high evidence)
GRN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Complex parkinsonism
  • frontotemporal lobar degeneration with TDP43 inclusions
  • clinical presentation suggestive of cortico-basal/PSP syndrome
Tags
Green Green List (high evidence)
GTPBP2
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
HPCA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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)
HTT_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Huntington disease 143100
Tags
  • STR
Green Green List (high evidence)
JPH3_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • STR
Green Green List (high evidence)
KIAA1161
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Autosomal Recessive Primary Familial Brain Calcification
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive
  • Abnormal movements
  • Dystonia
Tags
  • new-gene-name
Green Green List (high evidence)
KMT2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia 28, childhood-onset 617284
  • early-onset dystonia
Tags
Green Green List (high evidence)
LRRK2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • LRRK2 G2019S mutation
  • Parkinson Disease, Dominant
  • Parkinson disease 8, 607060
  • PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
  • Autosomal dominant Parkinson's disease
  • Parkinson Disease 8, Autosomal Dominant
Tags
Green Green List (high evidence)
LYST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • albinism
  • peripheral neuropathy
  • Chediak-Higashi syndrome 214500
  • Parkinsonism
Tags
Green Green List (high evidence)
MAPT
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Supranuclear palsy, progressive, 601104
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • Supranuclear palsy, progressive atypical, 260540
  • {Parkinson disease, susceptibility to}, 168600
  • Pick disease, 172700
  • Tauopathy and r
  • Dementia, frontotemporal, with or without parkinsonism, 600274
  • PARKINSON-DEMENTIA SYNDROME
Tags
Green Green List (high evidence)
NKX2-1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Chorea, hereditary benign 118700
Tags
Green Green List (high evidence)
PANK2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • pantothenate kinase-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 1
  • Early Onset Complex Disease
  • Dystonia
  • 234200
Tags
Green Green List (high evidence)
PARK7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • 606324
  • Parkinson disease 7 autosomal recessive early-onset
Tags
Green Green List (high evidence)
PDE10A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Striatal degeneration, autosomal dominant 616922
  • Dyskinesia, limb and orofacial, infantile-onset 616921
Tags
Green Green List (high evidence)
PDE2A
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
PDGFB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal ganglia calcification, idiopathic, 5 615483
Tags
Green Green List (high evidence)
PDGFRB
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal ganglia calcification, idiopathic, 4 615007
Tags
Green Green List (high evidence)
PINK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinson Disease 6, Autosomal Recessive Early-Onset
  • Parkinson disease 6, early onset, 605909
  • Dystonia
Tags
Green Green List (high evidence)
PLA2G6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial Paroxysmal Nonkinesigenic Dyskinesia
  • PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
  • Paroxysmal nonkinesigenic dyskinesia, 118800
Tags
Green Green List (high evidence)
PPP2R2B_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 12 604326
Tags
  • STR
Green Green List (high evidence)
PRKN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinson Disease, Juvenile
  • juvenile parkinsonism/dystonia
  • Dystonia
  • Parkinson disease, juvenile, type 2
  • Parkinson Disease 2, Autosomal Recessive Juvenile
Tags
Green Green List (high evidence)
PRKRA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Early-Onset Generalized Dystonia-Parkinsonism
  • Early Onset Complex Disease
  • Dystonia 16
  • early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
  • early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
  • Dystonia
  • Dystonia 16, 612067
Tags
Green Green List (high evidence)
PRNP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • SEIZURES, BENIGN FAMILIAL INFANTILE, 2
  • episodic kinesigenic dyskinesia
  • EPISODIC KINESIGENIC DYSKINESIA 1
  • dystonia and occasionally hemiplegic migraine and epilepsy
  • CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Tags
Green Green List (high evidence)
RAB39B
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
  • London North GLH
  • NHS GMS
Phenotypes
  • Waisman syndrome 311510
  • early-onset parkinsonism and intellectual disability
Tags
Green Green List (high evidence)
RNF216
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
SGCE
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Myoclonus dystonia syndrome
  • Myoclonus-Dystonia
  • maternally imprinted Dystonia-11, myoclonic, 159900
Tags
Green Green List (high evidence)
SLC19A3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483
Tags
Green Green List (high evidence)
SLC20A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal ganglia calcification, idiopathic, 1 213600
Tags
Green Green List (high evidence)
SLC2A1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • EPILEPSY, IDIOPATHIC GENERALIZED
  • dystonia 9
  • GLUT1 deficiency syndrome 2
  • GLUT1 deficiency syndrome 1
  • GLUT1 deficiency syndrome 2, childhood onset
  • Dystonia
  • GLUT1 deficiency syndrome 1, infantile onset, severe
  • GLUT1 DEFICIENCY SYNDROME 1
  • GLUT1 deficiency syndrome 1, 606777
  • paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Tags
Green Green List (high evidence)
SLC30A10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
  • hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia
Tags
Green Green List (high evidence)
SNCA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4)
  • Dementia, Lewy body, 127750
  • Parkinson disease 4, 605543
  • Parkinson disease 1, 168601
Tags
Green Green List (high evidence)
SPG11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Complex parkinsonism
  • hereditary spastic paraparesis
  • Early Onset Complex Disease
  • early onset parkinsonism, levo dopa responsve
Tags
Green Green List (high evidence)
SPR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
  • Dopa-Responsive Dystonia
  • paediatric form of dopa responsive dystonia
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Tags
Green Green List (high evidence)
SYNJ1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • juvenile Parkinsonism
  • Early Onset Complex Disease
  • Parkinson disease 20, early-onset, 615530
  • Parkinson disease 20, early-onset
Tags
Green Green List (high evidence)
TBK1
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Green Green List (high evidence)
THAP1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia 6, torsion, 602629
  • Dystonia
Tags
Green Green List (high evidence)
TIMM8A
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Mohr-Tranebjaerg syndrome, 304700
  • Deafness-Dystonia-Optic Neuronopathy Syndrome
Tags
Green Green List (high evidence)
TOR1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia-1, torsion, 128100
  • Early-Onset Primary Dystonia
  • Autosomal dominant or sporadic dystonia (DYT1)
Tags
Green Green List (high evidence)
TUBB4A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Complex parkinsonism
  • hypomyelinating leukodystrophy 6
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • Dystonia
  • hereditary whispering dysphonia
Tags
Green Green List (high evidence)
VAMP2
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
VPS13A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • complex parkinsonism
  • Choreoacanthocytosis 200150
Tags
Green Green List (high evidence)
VPS35
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • PARK17
  • PARKINSON DISEASE 17
  • Parkinson disease 17, 614203
  • Parkinson Disease, Dominant
  • late onset parkinson disease
Tags
Green Green List (high evidence)
WDR45
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
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodegeneration with brain iron accumulation 5 300894
  • Dystonia
  • beta-propeller protein-associated neurodegeneration
Tags
Green Green List (high evidence)
XPR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal ganglia calcification, idiopathic, 6 616413
Tags
Amber Amber List (moderate evidence)
ARSA
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Metachromatic leukodystrophy, 250100
  • Dystonia
Tags
Amber Amber List (moderate evidence)
ARX
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Partington Syndrome, 300382
  • Dystonia
Tags
Amber Amber List (moderate evidence)
AUH
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • 3-methylglutaconic aciduria, type I, 250950
  • Dystonia
Tags
Amber Amber List (moderate evidence)
CHCHD2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • 616710
  • Parkinson disease 22, autosomal dominant
Tags
Amber Amber List (moderate evidence)
CIZ1
3 reviews
1 red
Not set
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia 23, 614860
Tags
Amber Amber List (moderate evidence)
DDC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, 608643
  • Dystonia
Tags
Amber Amber List (moderate evidence)
EIF4G1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Parkinsons disease 18, 614251
Tags
Amber Amber List (moderate evidence)
FOXG1
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Rett Syndrome, congenital variant, 613454
  • Dystonia
Tags
Amber Amber List (moderate evidence)
PLP1
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Pelizaeus-Merzbacher disease, 312080
  • Spastic paraplegia 2, X-linked, 312920
  • Dystonia
Tags
Amber Amber List (moderate evidence)
PTS
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
  • Dystonia
Tags
Amber Amber List (moderate evidence)
QDPR
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, 261630
  • Dystonia
Tags
Amber Amber List (moderate evidence)
TAF1
3 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 Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
Tags
Amber Amber List (moderate evidence)
UCHL1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • ?{Parkinson disease 5, susceptibility to}
  • ?{Parkinson disease 5, susceptibility to}, 613643
  • Spastic paraplegia 79, autosomal recessive, 615491
Tags
Amber Amber List (moderate evidence)
YY1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Gabriele-de Vries syndrome
Tags
Red Red List (low evidence)
ADAR
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • dystonia
  • Aicardi-Goutieres syndrome 6, 615010
Tags
Red Red List (low evidence)
ADCY5
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • dystonia
  • Familial dyskinesia 606703
  • Dyskinesia, familial, with facial myokymia, 606703
Tags
Red Red List (low evidence)
AIFM1
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 6 300816
Tags
Red Red List (low evidence)
AP1S2
3 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Mental retardation, X-linked syndromic 5 304340
  • Dystonia
Tags
Red Red List (low evidence)
ATN1
3 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
Red Red List (low evidence)
ATP6AP2
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Parkinsonism with spasticity, X-linked 300911
  • Mental retardation, X-linked, syndromic, Hedera type 300423
Tags
Red Red List (low evidence)
ATXN1
2 reviews
2 red
Not set
Sources
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
ATXN2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • {Parkinson disease, late-onset, susceptibility to}, 168600
  • (CAGexpansion)
  • familial parkinsonism
  • Spinocerebellar ataxia 2, 183190
  • {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190
Tags
Red Red List (low evidence)
ATXN3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • (CAGexpansion)
  • familial parkinsonism
Tags
Red Red List (low evidence)
BCAP31
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
  • DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Tags
Red Red List (low evidence)
BCS1L
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Bjornstad syndrome, 262000
  • Leigh syndrome, 256000
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
Tags
Red Red List (low evidence)
BDNF
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Central hypoventilation syndrome, congenital 209880
Tags
Red Red List (low evidence)
C9orf72
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • complex parkinsonism
  • (Hexanucleotideexpansion)
  • clinical presentation suggestive of cortico-basal/PSP syndrome
Tags
Red Red List (low evidence)
CACNB4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
  • EPISODIC ATAXIA, TYPE 5
Tags
Red Red List (low evidence)
COASY
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • COASY protein-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 6
  • Neurodegeneration with brain iron accumulation 6 615643
Tags
Red Red List (low evidence)
COX10
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Leigh syndrome due to mitochondrial COX4 deficiency, 256000
  • Mitochondrial complex IV deficiency, 220110
Tags
Red Red List (low evidence)
COX15
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Tags
Red Red List (low evidence)
CSTB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • microcephaly and severe dyskinesia (26843564)
  • Epilepsy, progressive myoclonic 1A, 254800
Tags
Red Red List (low evidence)
DCAF10
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
DLAT
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • episodic dystonia
  • pyruvate dehydrogenase deficiency
  • Pyruvate dehydrogenase E2 deficiency
  • Pyruvate dehydrogenase E2 deficiency 245348
Tags
Red Red List (low evidence)
DRD2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia, myoclonic, 159900
Tags
Red Red List (low evidence)
DRD5
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • {Blepharospasm, primary benign}, 606798
Tags
Red Red List (low evidence)
EARS2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
  • Dystonia
Tags
Red Red List (low evidence)
ERCC6
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ETHE1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Ethylmalonic encephalopathy 602473
Tags
Red Red List (low evidence)
FA2H
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • fatty acid hydroxylase-associated neurodegeneration
  • Spastic paraplegia 35, autosomal recessive 612319
  • Dystonia
Tags
Red Red List (low evidence)
FASTKD2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FOXP2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Speech-language disorder-1 602081
Tags
Red Red List (low evidence)
FOXRED1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19, 618241
  • Dystonia
Tags
Red Red List (low evidence)
GAMT
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736
  • Dystonia
Tags
Red Red List (low evidence)
GCDH
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
GIGYF2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Susceptibility to Parkinson disease 11, 607688
  • {Parkinson disease 11}
Tags
Red Red List (low evidence)
GLRA1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Tags
Red Red List (low evidence)
GLRB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperekplexia 2, 614619
Tags
Red Red List (low evidence)
GNAO1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with involuntary movements, 617493
Tags
Red Red List (low evidence)
HEXA
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Hex A pseudodeficiency 272800
  • GM2-gangliosidosis, several forms 272800
  • Tay-Sachs disease 272800
Tags
Red Red List (low evidence)
HIBCH
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Tags
Red Red List (low evidence)
HPRT1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Lesch-Nyhan syndrome, 300322
  • Dystonia
Tags
Red Red List (low evidence)
HTRA2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinson Disease, Dominant
  • Parkinson disease 13, 610297
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Red Red List (low evidence)
HTT
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Huntington disease
Tags
Red Red List (low evidence)
IFIH1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Aicardi-Goutieres syndrome 7 615846
Tags
Red Red List (low evidence)
IPPK
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Early Onset Complex Disease
Tags
Red Red List (low evidence)
Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37468-Loss
Region
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Other
Phenotypes
  • hypotonia
  • episodes of sudden loss of muscle tone
  • short stature
  • severe intellectual disability
  • autistic features
  • eleveated serotonin levels
  • exiting behavior
  • lip-smacking
  • stereotypical hand movements
Tags
Red Red List (low evidence)
ISG15
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Immunodeficiency 38 616126
Tags
Red Red List (low evidence)
IVD
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Isovaleric acidemia
Tags
Red Red List (low evidence)
JPH3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Huntington disease-like 2
Tags
Red Red List (low evidence)
KCNA1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • EPISODIC ATAXIA, TYPE 1
  • myokymia with periodic ataxia
Tags
Red Red List (low evidence)
KCNK18
3 reviews
3 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Tags
Red Red List (low evidence)
KCNQ2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Myokymia, 121200
Tags
Red Red List (low evidence)
KCNQ3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Seizures, benign neonatal, type 2, 121201
Tags
Red Red List (low evidence)
L2HGDH
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
  • Dystonia
Tags
Red Red List (low evidence)
MAT1A
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850
  • Dystonia
Tags
Red Red List (low evidence)
MCOLN1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Mucolipidosis IV, 252650
  • Dystonia
Tags
Red Red List (low evidence)
MECR
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Tags
Red Red List (low evidence)
MMADHC
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Methylmalonic aciduria, cblD type, variant 2
  • Homocystinuria, cblD type, variant 1
  • Methylmalonic aciduria and homocystinuria, cblD type, 277410
  • Dystonia
Tags
Red Red List (low evidence)
MPV17
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
  • Dystonia
Tags
Red Red List (low evidence)
MR1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Paroxysmal/Episodic dystonia
  • Dystonia
Tags
Red Red List (low evidence)
MT-ATP6
2 reviews
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
MT-ND1
2 reviews
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
MT-ND6
2 reviews
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Leber Optic Atrophy And Dystonia
Tags
Red Red List (low evidence)
MUT
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria, mut(0) type
Tags
  • new-gene-name
Red Red List (low evidence)
NDUFA1
3 reviews
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency
Tags
Red Red List (low evidence)
NDUFA10
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Leigh syndrome
Tags
Red Red List (low evidence)
NDUFA12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 23, 618244
  • Leigh syndrome due to mitochondrial complex 1 deficiency
Tags
Red Red List (low evidence)
NDUFA2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 13
Tags
Red Red List (low evidence)
NDUFA9
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 26, 618247
  • Leigh syndrome due to mitochondrial complex I deficiency
Tags
Red Red List (low evidence)
NDUFAF2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, 618233
Tags
Red Red List (low evidence)
NDUFAF6
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency
Tags
Red Red List (low evidence)
NDUFS3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
  • Mitochondrial complex I deficiency
  • Mitochondrial complex I deficiency, nuclear type 8, 618230
Tags
Red Red List (low evidence)
NDUFS4
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency 252010
  • Leigh syndrome 256000
Tags
Red Red List (low evidence)
NDUFS7
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 3, 618224
Tags
Red Red List (low evidence)
NDUFS8
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 2, 618222
Tags
Red Red List (low evidence)
NDUFV1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Red Red List (low evidence)
NKX6-2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Tags
Red Red List (low evidence)
NPC2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Niemann-pick disease, type C2, 607625
  • Dystonia
Tags
Red Red List (low evidence)
NR4A2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Parkinson Disease, Dominant/Recessive (susceptibility to)
Tags
Red Red List (low evidence)
NUP62
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Striatonigral degeneration, infantile
  • Striatonigral degeneration, infantile 271930
Tags
Red Red List (low evidence)
OCLN
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria 251290
Tags
Red Red List (low evidence)
OPA3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
  • Costeff syndrome
Tags
Red Red List (low evidence)
PCCA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Propionicacidemia
Tags
Red Red List (low evidence)
PCCB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Propionicacidemia
Tags
Red Red List (low evidence)
PCDH12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • intellectual disability
  • Microcephaly
  • perithalamic hyperechogenicity
  • midbrain abnormalities
  • hypothalamic abnormalities
  • epilepsy
  • microcephaly
  • periventricular hyperechogenicity
Tags
Red Red List (low evidence)
PDHA1
2 reviews
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency 312170
Tags
Red Red List (low evidence)
PDHX
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Lacticacidemia due to PDX1 deficiency, 245349
  • Dystonia
Tags
Red Red List (low evidence)
PDP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, 608782
Tags
Red Red List (low evidence)
PDX1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • MODY, type IV 606392
  • Pancreatic agenesis 1 260370
  • Pancreatic agenesis 1
Tags
Red Red List (low evidence)
PNPT1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 13, 614932
  • Dystonia
Tags
Red Red List (low evidence)
PPP2R2B
2 reviews
2 red
Not set
Sources
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
PSEN1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Pick disease, 172700
  • Dementia, frontotemporal 600274
  • Alzheimer disease, type 3, 607822
  • Cardiomyopathy, dilated, 1U, 613694
  • Dystonia
Tags
Red Red List (low evidence)
PTEN
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Cowden syndrome 1, 158350
  • Macrocephaly/autism syndrome, 605309
  • Lhermitte-Duclos syndrome, 158350
  • VATER association with macrocephaly and ventriculomegaly, 276950
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2A
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Aicardi-Goutieres syndrome 4, 610333
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2B
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Aicardi-Goutieres syndrome 2, 610181
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2C
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Aicardi-Goutieres syndrome 3, 610329
  • Dystonia
Tags
Red Red List (low evidence)
SAMHD1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952
  • Dystonia
Tags
Red Red List (low evidence)
SCN1A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Dravet syndrome
  • several epilepsy, convulsion and migraine disorders.
  • familial hemiplegic migraine 3
Tags
Red Red List (low evidence)
SCN8A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • epilepsy
  • paroxysmal kinesigenic dyskinesias
Tags
Red Red List (low evidence)
SCN9A
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Paroxysmal extreme pain disorder, 167400
  • Erythermalgia, primary, 133020
  • Erythermalgia, Primary
  • Paroxysmal Extreme Pain Disorder
  • Congenital Indifference to Pain
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Insensitivity to pain, channelopathy-associated, 243000
  • Dysosteosclerosis
  • Hereditary Sensory Neuropathy
  • Febrile seizures, familial, 3B, 613863
Tags
Red Red List (low evidence)
SCP2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, 613724
  • ?Leukoencephalopathy with dystonia and motor neuropathy, 613724
Tags
Red Red List (low evidence)
SDHA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Cardiomyopathy, dilated, 1GG, 613642
  • Leigh syndrome, 256000
  • Mitochondrial respiratory chain complex II deficiency, 252011
Tags
Red Red List (low evidence)
SDHAF1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Mitochondrial complex II deficiency, 252011
  • Dystonia
Tags
Red Red List (low evidence)
SERAC1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
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
Red Red List (low evidence)
SLC1A3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • EPISODIC ATAXIA, TYPE 6
Tags
Red Red List (low evidence)
SLC25A19
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710
  • Microcephaly, Amish type 607196
Tags
Red Red List (low evidence)
SLC39A14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypermanganesemia with dystonia 2
Tags
Red Red List (low evidence)
SLC41A1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Parkinson disease (Yan (2011) Int J Neurosci 121,632)
Tags
Red Red List (low evidence)
SLC46A1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Folate malabsorption, hereditary, 229050
  • Dystonia
Tags
Red Red List (low evidence)
SLC6A3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135
Tags
Red Red List (low evidence)
SLC6A5
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperekplexia 3, 614618
Tags
Red Red List (low evidence)
SNCAIP
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Parkinson Disease, Dominant/Recessive
Tags
Red Red List (low evidence)
SUCLA2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
SUCLG1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Tags
Red Red List (low evidence)
SUOX
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Sulfite oxidase deficiency, 272300
  • Dystonia
Tags
Red Red List (low evidence)
SURF1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 4K, 616684
  • Leigh syndrome, due to COX IV deficiency, 256000
Tags
Red Red List (low evidence)
TBP
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • {Parkinson disease, susceptibility to}, 168600
  • Mohr-Tranebjaerg syndrome, 304700
  • Spinocerebellar ataxia 17, 607136
Tags
Red Red List (low evidence)
TH
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Segawa syndrome
  • paediatric form of dopa responsive dystonia
  • infantile parkinsonism
  • DOPA-responsive dystonia
  • Segawa syndrome, recessive, 605407
Tags
Red Red List (low evidence)
TPK1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
  • Dystonia
Tags
Red Red List (low evidence)
TREM2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
  • Frontotemporal dementia
  • Alzheimers disease
  • Dystonia
Tags
Red Red List (low evidence)
TREX1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Vasculopathy, retinal, with cerebral leukodystrophy, 192315
  • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
  • Dystonia
Tags
Red Red List (low evidence)
TUBA1A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Lissencephaly 3 611603
Tags
Red Red List (low evidence)
VAC14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Striatonigral degeneration, childhood-onset
Tags
Red Red List (low evidence)
VPS37A
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, 614898
  • Dystonia
Tags
Red Red List (low evidence)
WDR73
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 1, 251300
Tags

Downloads

Download lists

Download Version