Description
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 (version 1.14: https://panelapp.genomicsengland.co.uk/api/v1/panels/540/?version=1.14) was signed off under NHS Genomic Medicine Service governance on (15/10/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your 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)
- Parkinson Disease and Complex Parkinsonism (v1.64)
- Brain channelopathy (v1.48)
- Structural basal ganglia disorders (v1.10)

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • 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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

216 Entities

216 reviewed, 69 green

List Entity Reviews Mode of inheritance Details
216 Entitiess
Green Green List (high evidence)
ACTB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia, juvenile-onset, OMIM:607371
  • developmental malformations-deafness-dystonia syndrome MONDO:0011823
  • Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
Tags
Green Green List (high evidence)
AFG3L2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Spastic ataxia 5, autosomal recessive OMIM:614487
  • spastic ataxia 5 MONDO:0013776
  • Spinocerebellar ataxia 28 OMIM:610246
  • spinocerebellar ataxia type 28 MONDO:0012450
Tags
Green Green List (high evidence)
ANO3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia 24 OMIM:615034
  • dystonia 24 MONDO:0014019
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
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920
  • ataxia with oculomotor apraxia type 1 MONDO:0008842
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
  • Ataxia-telangiectasia OMIM:208900
  • ataxia telangiectasia MONDO:0008840
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
  • Kufor-Rakeb Syndrome OMIM:606693
  • Kufor-Rakeb syndrome MONDO:0011706
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 OMIM:602481
  • familial hemiplegic migraine type 2 OMIM:602481
  • migraine, familial hemiplegic, 2 MONDO:0011232
  • alternating hemiplegia of childhood OMIM:104290
  • alternating hemiplegia of childhood 1 MONDO:0007087
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
  • Alternating hemiplegia of childhood 2 OMIM:614820
  • alternating hemiplegia of childhood 2 MONDO:0013900
  • CAPOS syndrome OMIM:601338
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038
  • Dystonia-12 OMIM:128235
  • dystonia 12 MONDO:0007496
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 OMIM:277900
  • Wilson disease MONDO:0010200
Tags
Green Green List (high evidence)
C19orf12
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive OMIM:615043
  • hereditary spastic paraplegia 43 MONDO:0014024
  • Neurodegeneration with brain iron accumulation 4 OMIM:614298
  • neurodegeneration with brain iron accumulation 4 MONDO:0013674
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
  • Episodic ataxia, type 2, OMIM:108500
  • Spinocerebellar ataxia 6, OMIM:183086
  • Migraine, familial hemiplegic, 1, OMIM:141500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Tags
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
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795
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, OMIM:604290
  • Hypoceruloplasminemia, hereditary, OMIM:604290
  • Hemosiderosis, systemic, due to aceruloplasminemia, OMIM: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
  • Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Tags
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, OMIM:213700
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, OMIM:241080
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, OMIM:168605
  • Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641
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 19, juvenile-onset, OMIM:615528
  • Parkinson disease 19b, early-onset, OMIM:615528
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, OMIM:260300
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, OMIM:606159
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}, OMIM: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, OMIM:233910
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230
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, OMIM: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
  • Dystonia 25, OMIM: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
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
Tags
Green Green List (high evidence)
GTPBP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Jaberi-Elahi syndrome, OMIM:617988
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, OMIM:224500
Tags
Green Green List (high evidence)
JPH3_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • 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
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
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, OMIM:617284
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
  • {Parkinson disease 8}, OMIM:607060
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
  • Chediak-Higashi syndrome, OMIM:214500
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, OMIM:601104
  • Supranuclear palsy, progressive atypical, OMIM:260540
  • {Parkinson disease, susceptibility to}, OMIM:168600
  • Dementia, frontotemporal, with or without parkinsonism, OMIM:600274
  • Pick disease, OMIM:172700
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, OMIM:610978
  • Chorea, hereditary benign, OMIM: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
  • Neurodegeneration with brain iron accumulation 1, OMIM: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
  • Parkinson disease 7, autosomal recessive early-onset, OMIM:606324
Tags
Green Green List (high evidence)
PDE10A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Striatal degeneration, autosomal dominant, OMIM:616922
  • Dyskinesia, limb and orofacial, infantile-onset, OMIM:616921
Tags
  • Q2_21_MOI
  • Q2_21_rating
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, OMIM: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, OMIM: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, early onset, OMIM:605909
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
  • Parkinson disease 14, autosomal recessive, OMIM:612953
  • Neurodegeneration with brain iron accumulation 2B, OMIM:610217
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
  • Paroxysmal nonkinesigenic dyskinesia 1, OMIM:118800
Tags
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, type 2, OMIM:600116
Tags
Green Green List (high evidence)
PRKRA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia 16, OMIM:612067
Tags
Green Green List (high evidence)
PRNP
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebral amyloid angiopathy, PRNP-related, OMIM:137440
  • Huntington disease-like 1, OMIM:603218
  • Gerstmann-Straussler disease, OMIM:137440
  • Creutzfeldt-Jakob disease, OMIM:123400
Tags
Green Green List (high evidence)
PRRT2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic kinesigenic dyskinesia 1, OMIM:128200
  • Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066
Tags
Green Green List (high evidence)
RAB39B
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 Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Waisman syndrome, OMIM:311510
Tags
Green Green List (high evidence)
RNF216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
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
  • Dystonia-11, myoclonic, OMIM: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), OMIM: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, OMIM:213600
Tags
Green Green List (high evidence)
SLC2A1
3 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
  • Dystonia 9, OMIM:601042
  • GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777
  • GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
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
  • Hypermanganesemia with dystonia 1, OMIM:613280
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
  • Dementia, Lewy body, OMIM:127750
  • Parkinson disease 4, OMIM:605543
  • Parkinson disease 1, OMIM: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
  • Spastic paraplegia 11, autosomal recessive, OMIM:604360
  • Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668
  • Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
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, OMIM: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
  • Parkinson disease 20, early-onset, OMIM:615530
Tags
Green Green List (high evidence)
TBK1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
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, OMIM:602629
Tags
Green Green List (high evidence)
TIMM8A
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Mohr-Tranebjaerg syndrome, OMIM:304700
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, OMIM:128100
  • Dystonic disorder, MONDO:0003441
Tags
Green Green List (high evidence)
TUBB4A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia 4, torsion, autosomal dominant, OMIM:128101
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
  • Choreoacanthocytosis, OMIM: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
  • Parkinson disease 17, OMIM:614203
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, OMIM:300894
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, OMIM:616413
Tags
Amber Amber List (moderate evidence)
ARSA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Metachromatic leukodystrophy, OMIM:250100
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, OMIM:309510
Tags
Amber Amber List (moderate evidence)
ATXN1_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
  • for-review
  • STR
Amber Amber List (moderate evidence)
ATXN2_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • for-review
  • STR
Amber Amber List (moderate evidence)
ATXN3_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • for-review
  • STR
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, OMIM:250950
  • Dystonia
Tags
Amber Amber List (moderate evidence)
CACNA1A_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • for-review
  • STR
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
  • Parkinson disease 22, autosomal dominant, OMIM:616710
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)
CSTB_CCCCGCCCCGCG
STR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
  • for-review
  • STR
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, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
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)
GLB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • GM1-gangliosidosis, type III, 230650
Tags
Amber Amber List (moderate evidence)
PDE2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150
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)
PPP2R2B_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 12 604326
Tags
  • for-review
  • STR
Amber Amber List (moderate evidence)
PPP2R5D
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 35 OMIM:616355
  • intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602
Tags
  • Q2_21_phenotype
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, OMIM:314250
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}, OMIM:613643
Tags
Amber Amber List (moderate evidence)
VAMP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760
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, OMIM:617557
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
No list No list
HTT_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Huntington disease 143100
Tags
  • curated_removed
  • STR

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