Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R58 Adult onset neurodegenerative disorder' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R58 Adult onset neurodegenerative disorder'.

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

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

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

This panel has been initially created as a merge of genomic entities from the following 7 panels: 
- Hereditary ataxia v1.148
- Hereditary spastic paraplegia v 1.185
- Early onset dystonia v1.68
- Parkinson Disease and Complex Parkinsonism v1.64
- Brain channelopathy v1.46
- Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45
- Amyotrophic lateral sclerosis/motor neuron disease v1.26

5 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (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

  • Anthony Dallosso (Bristol Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

401 Entities

315 reviewed, 275 green

List Entity Reviews Mode of inheritance Details
401 Entitiess
Green Green List (high evidence)
AAAS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, 231550
Tags
Green Green List (high evidence)
ABCB7
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 Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Anemia, sideroblastic, with ataxia,
  • Sideroblastic Anemia and Ataxia
Tags
Green Green List (high evidence)
ABCD1
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
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary spastic paraplegia
  • adrenal failure
  • VLCFA accumulation
  • spastic paraparesis
Tags
Green Green List (high evidence)
ABHD12
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Tags
Green Green List (high evidence)
ADAR
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Aicardi-Goutieres syndrome 6, 615010
  • dystonia
Tags
Green Green List (high evidence)
ADCY5
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • dystonia
  • Familial dyskinesia 606703
  • Dyskinesia, familial, with facial myokymia, 606703
Tags
Green Green List (high evidence)
AFG3L2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 28
  • Spinocerebellar Ataxia, Dominant
  • Ataxia, spastic, 5, autosomal recessive
  • Dystonia
  • Spastic ataxia 5, autosomal recessive
Tags
Green Green List (high evidence)
AIMP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, 260600
Tags
Green Green List (high evidence)
ALDH18A1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 9A, autosomal dominant
  • ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
  • Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3
  • SPG9
Tags
Green Green List (high evidence)
ALS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Primary lateral sclerosis, juvenile, 606353
  • Spastic paralysis, infantile onset ascending, 607225
  • Amyotrophic lateral sclerosis 2, juvenile, 205100
  • Amyotrophic Lateral Sclerosis, Recessive
Tags
Green Green List (high evidence)
AMPD2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
  • Hereditary Spastic Paraplegia?
  • Pontocerebellar hypoplasia 9 (#615809)
  • Pontocerebellar hypolplasia (biallelic)
Tags
Green Green List (high evidence)
ANG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyotrophic lateral sclerosis 9, 611895
  • Amyotrophic Lateral Sclerosis, Dominant
  • familial amyotrophic lateral sclerosis (ALS9)
Tags
Green Green List (high evidence)
ANO10
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Green Green List (high evidence)
ANO3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
Tags
Green Green List (high evidence)
AP1S2
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 Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • Mental retardation, X-linked syndromic 5, 304340
Tags
Green Green List (high evidence)
AP4B1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 47, autosomal recessive
Tags
Green Green List (high evidence)
AP4E1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 51, autosomal recessive
Tags
Green Green List (high evidence)
AP4M1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 50, autosomal recessive
Tags
Green Green List (high evidence)
AP4S1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • developmental delay
  • seizures
  • Spastic paraplegia 52, autosomal recessive
Tags
Green Green List (high evidence)
AP5Z1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Spastic Paraplegia, Recessive
  • Spastic paraplegia 48, autosomal recessive
Tags
Green Green List (high evidence)
APP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Clinical syndrome Alzheimer disease
  • Dementia
Tags
Green Green List (high evidence)
APTX
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia with Oculomotor Apraxia
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Dystonia
Tags
Green Green List (high evidence)
AR
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Green Green List (high evidence)
AR_CAG
STR
1 review
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
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
  • STR
Green Green List (high evidence)
ARG1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Argininaemia, 207800
  • Progressive spastic tetraplegia
Tags
Green Green List (high evidence)
ARSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Metachromatic leukodystrophy (#250100)
  • Dystonia
Tags
Green Green List (high evidence)
ATCAY
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia, cerebellar, Cayman type
  • Cerebellar Ataxia, Cayman type
Tags
Green Green List (high evidence)
ATL1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 3A, autosomal dominant,
  • Spastic Paraplegia, Dominant
  • Spastic paraplegia 3A, autosomal dominant
Tags
Green Green List (high evidence)
ATM
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • Ataxia-Telangiectasia
  • Ataxia telangiectasia
  • Ataxia-telangiectasia,
Tags
Green Green List (high evidence)
ATN1_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
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
  • Kufor-Rakeb Syndrome
  • Parkinson disease
  • Adult-onset lower-limb predominant spastic paraparesis
  • Spastic paraplegia 78, autosomal recessive, 617225
  • complicated hereditary spastic paraplegia
Tags
Green Green List (high evidence)
ATP1A2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • alternating hemiplegia of childhood 104290
  • familial basilar migraine 602481
  • migraine
  • familial hemiplegic migraine type 2, 602481
Tags
  • treatable
Green Green List (high evidence)
ATP1A3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
  • CAPOS syndrome
  • DYSTONIA 12, 128235
  • Dystonia-12
  • alternating hemiplegia of childhood
  • Dystonia-12, 128235
  • Rapid-Onset Dystonia-Parkinsonism
  • rapid-onset dystonia-parkinsonism
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
  • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Tags
  • treatable
Green Green List (high evidence)
ATP7B
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Wilson disease 277900
  • Dystonia
  • Wilson Disease
Tags
  • treatable
Green Green List (high evidence)
ATXN10_ATTCT
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellar ataxia 10 603516
Tags
  • STR
Green Green List (high evidence)
ATXN1_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
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 Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
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 Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
Green Green List (high evidence)
ATXN7_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellar ataxia 7 164500
Tags
  • STR
Green Green List (high evidence)
AUH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
B4GALNT1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 26, autosomal recessive
Tags
Green Green List (high evidence)
BCAP31
2 reviews
1 green
Unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
Tags
Green Green List (high evidence)
BSCL2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Silver spastic paraplegia syndrome,
Tags
Green Green List (high evidence)
C12orf65
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spasticparaplegia55,autosomalrecessive,615035
Tags
Green Green List (high evidence)
C19orf12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • mitochondrial membrane protein-associated neurodegeneration
  • Dystonia
  • neurodegeneration with brain iron accumulation-4
  • Neurodegeneration with brain iron accumulation 4
Tags
Green Green List (high evidence)
C9orf72_GGGGCC
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Tags
  • STR
Green Green List (high evidence)
CA8
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Tags
Green Green List (high evidence)
CACNA1A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • episodic ataxia type 2 (EA2),108500
  • familial hemiplegic migraine type 1, 141500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
  • Dystonia
  • Spinocerebellar ataxia 6
  • Episodic ataxia, type 2
Tags
  • nucleotide-repeat-expansion
  • treatable
Green Green List (high evidence)
CACNA1A_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • STR
Green Green List (high evidence)
CACNA1G
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 42, 61679
Tags
Green Green List (high evidence)
CACNB4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic ataxia, type 5
  • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
  • EPISODIC ATAXIA, TYPE 5
  • Episodic Ataxia
Tags
  • treatable
Green Green List (high evidence)
CAMTA1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellarataxia, nonprogressive, with mental retardation, 614756
Tags
Green Green List (high evidence)
CAPN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 76 autosomal recessive 616907
Tags
Green Green List (high evidence)
CASK
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 Green
  • London North GLH
  • NHS GMS
Phenotypes
  • FG syndrome 4, 300422
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Tags
Green Green List (high evidence)
CCNF
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
CHCHD10
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Tags
Green Green List (high evidence)
CHMP1A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia, type 8, 614961
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
  • familial frontotemporal lobar degeneration (ALS17)
  • Dystonia
  • Frontotemporal Dementia
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • Dementia, familial, nonspecific, 600795
  • Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696
  • Amyotrophic lateral sclerosis 17, 614696
Tags
Green Green List (high evidence)
CLCN2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
  • Leukoencephalopathy with ataxia, 615651
Tags
Green Green List (high evidence)
CLN6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Tags
Green Green List (high evidence)
COASY
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • COASY protein-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 6
Tags
Green Green List (high evidence)
COQ8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary 4, 612016
  • Spinocerebellar Ataxia Type
Tags
Green Green List (high evidence)
COX20
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
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
  • Dystonia
  • Aceruloplasminemia
  • Cerebellar ataxia, 604290
  • 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
  • Dementia
  • diffuse leukoencephalopathy with spheroids
Tags
  • adult-onset
Green Green List (high evidence)
CSTB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 1A, 254800
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
  • microcephaly and severe dyskinesia (26843564)
Tags
Green Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
  • STR
Green Green List (high evidence)
CTSF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362
Tags
Green Green List (high evidence)
CWF19L1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
Tags
Green Green List (high evidence)
CYP27A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
  • progressive lower extremity spasticity,often disproportionate to any degree of weakness
Tags
Green Green List (high evidence)
CYP2U1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
  • Spastic paraplegia 56, autosomal recessive
Tags
Green Green List (high evidence)
CYP7B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 5A, autosomal recessive
Tags
Green Green List (high evidence)
DARS
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Brain stem and spinal cord Hypomyelination
  • leg spasticity
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
Green Green List (high evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DCAF17
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • Woodhouse-Sakati syndrome
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
  • Neuropathy, distal hereditary motor, type VIIB, 607641
  • Perry syndrome
  • Neuropathy, distal hereditary motor, type VIIB
  • Perry syndrome, 168605
  • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Tags
Green Green List (high evidence)
DDC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
DDHD1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 28, autosomal recessive
Tags
Green Green List (high evidence)
DDHD2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.
  • Spastic paraplegia 54, autosomal recessive
Tags
Green Green List (high evidence)
DLAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
DNAJC19
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria, type V 610198
  • dilated cardiomyopathy with ataxia (DCMA) syndrome
Tags
Green Green List (high evidence)
DNAJC5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
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 19b, early-onset
  • Parkinson disease 19, juvenile-onset, 615528
  • Parkinson disease 19a, juvenile-onset
Tags
Green Green List (high evidence)
DNMT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dementia, Deafness, and Sensory Neuropathy
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Tags
Green Green List (high evidence)
EIF2B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
  • Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Tags
Green Green List (high evidence)
EIF2B2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
ELOVL4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 34 133190
Tags
Green Green List (high evidence)
EPM2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
Green Green List (high evidence)
ERLIN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary spastic paraplegia
  • Spastic paraplegia 62, 615681
Tags
Green Green List (high evidence)
ERLIN2
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • neurodegeneration
  • hereditary spastic paraplegia
  • Spastic paraplegia 18, autosomal recessive, 611225
  • Spastic paraplegia, autosomal dominant
Tags
Green Green List (high evidence)
EXOSC3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, 614678
Tags
Green Green List (high evidence)
FA2H
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • fatty acid hydroxylase-associated neurodegeneration
  • Spastic paraplegia 35, autosomal recessive
Tags
Green Green List (high evidence)
FARS2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 77, autosomal recessive, 617046
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, Recessive
  • Dystonia
  • juvenile parkinsonism
  • parkinsonian-pyramidal syndrome
  • Parkinson disease 15, autosomal recessive, 260300
  • Early Onset Complex Disease
Tags
Green Green List (high evidence)
FGF14
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 27
Tags
Green Green List (high evidence)
FIG4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J, 611228
  • Amyotrophic Lateral Sclerosis, Dominant
Tags
Green Green List (high evidence)
FLVCR1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Posterior Column Ataxia with Retinitis Pigmentosa
  • Ataxia, posterior column, with retinitis pigmentosa,
Tags
Green Green List (high evidence)
FMR1
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
  • FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
  • males with a tremor phenotype
  • FragileXtremor/ataxiasyndrome,300623
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
FOLR1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
Tags
Green Green List (high evidence)
FTL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodegeneration with brain iron accumulation 3
  • movement disorder
Tags
Green Green List (high evidence)
FUS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dementia
  • Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal
  • Amyotrophic Lateral Sclerosis, Dominant
Tags
Green Green List (high evidence)
FXN
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
FXN_GAA
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
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
  • Gaucher disease, type I, 230800
Tags
  • treatable
Green Green List (high evidence)
GBA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409
Tags
Green Green List (high evidence)
GFAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal Dominant Ataxia
  • Alexander disease
Tags
Green Green List (high evidence)
GJC2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 2
  • Autosomal Recessive Ataxia
  • Spastic paraplegia 44, autosomal recessive
Tags
Green Green List (high evidence)
GLRA1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Tags
Green Green List (high evidence)
GLRB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperekplexia 2, 614619
Tags
Green Green List (high evidence)
GNAL
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • adult-onset cranio-cervical dystonia
  • Dystonia 25, 615073
Tags
  • watchlist
Green Green List (high evidence)
GNAO1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with involuntary movements, 617493
Tags
  • mosaicism
Green Green List (high evidence)
GOSR2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
Green Green List (high evidence)
GPAA1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green Green List (high evidence)
GRID2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18, 616204
Tags
Green Green List (high evidence)
GRM1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13
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
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • Complex parkinsonism
  • Frontotemporal Dementia
  • frontotemporal lobar degeneration with TDP43 inclusions
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Tags
Green Green List (high evidence)
HACE1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia
  • psychomotor retardation
  • seizure
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Tags
Green Green List (high evidence)
HEXA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HEXB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, 268800
Tags
Green Green List (high evidence)
HNRNPA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Tags
Green Green List (high evidence)
HPCA
2 reviews
1 red
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
  • adolescence-onset segmental dystonia
  • childhood-onset generalized dystonia
Tags
Green Green List (high evidence)
HSPD1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 13, autosomal dominant
Tags
Green Green List (high evidence)
HTRA1
2 reviews
1 green
Unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dementia
Tags
Green Green List (high evidence)
HTRA2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinson Disease, Dominant
  • Parkinson disease 13, 610297
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
HTT_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Huntington disease 143100
Tags
  • STR
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • 105831
  • Angelman syndrome
  • Developmental delay, muscle weakness
  • Mental retardation
  • 176270
  • microcephaly
  • Prader-Willi syndrome
Tags
Green Green List (high 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 females)
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain
Region
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
  • hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636
  • chromosome 15q11-q13 duplication syndrome
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • 105830
  • Angelman syndrome
  • Developmental delay, muscle weakness
  • Mental retardation
  • 176270
  • microcephaly
  • Prader-Willi syndrome
Tags
Green Green List (high evidence)
ITM2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dementia, familial British, 176500
Tags
Green Green List (high evidence)
ITPR1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 29
  • Spinocerebellar ataxia 15
Tags
Green Green List (high evidence)
JPH3_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • STR
Green Green List (high evidence)
KCNA1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • myokymia with periodic ataxia
  • Episodic ataxia/myokymia syndrome,
  • EPISODIC ATAXIA, TYPE 1
Tags
  • treatable
Green Green List (high evidence)
KCNC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 13
Tags
Green Green List (high evidence)
KCND3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellarataxia19,607346
Tags
Green Green List (high evidence)
KCNJ10
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Tags
Green Green List (high evidence)
KCNQ2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • Myokymia, 121200
Tags
Green Green List (high evidence)
KCNQ3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Seizures, benign neonatal, type 2, 121201
Tags
Green Green List (high evidence)
KIAA1161
2 reviews
1 green
Not set
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
  • new-gene-name
Green Green List (high evidence)
KIDINS220
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296
Tags
Green Green List (high evidence)
KIF1A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 30, autosomal recessive
Tags
  • watchlist
Green Green List (high evidence)
KIF1C
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic ataxia 2,autosomal recessive
Tags
Green Green List (high evidence)
KIF5A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 10, autosomal dominant
Tags
Green Green List (high evidence)
KMT2B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • early-onset dystonia
Tags
  • treatable
Green Green List (high evidence)
L1CAM
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
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, Autosomal Dominant
  • Autosomal dominant Parkinson's disease
  • Parkinson Disease, Dominant
  • PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
  • LRRK2 G2019S mutation
  • Parkinson disease 8, 607060
Tags
  • curated-variant-list
  • missense
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 214500
  • peripheral neuropathy
  • Parkinsonism
  • albinism
  • spastic paraplegia
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
  • Dementia, frontotemporal, with or without parkinsonism, 600274
  • Tauopathy and r
  • Supranuclear palsy, progressive, 601104
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • PARKINSON-DEMENTIA SYNDROME
  • {Parkinson disease, susceptibility to}, 168600
  • Pick disease, 172700
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
  • Supranuclear palsy, progressive atypical, 260540
Tags
  • treatable
Green Green List (high evidence)
MARS2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic ataxia 3, autosomal recessive
Tags
  • cnv
  • gene-duplication
Green Green List (high evidence)
MECR
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Tags
Green Green List (high evidence)
MMACHC
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia and hypogonadism
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green Green List (high evidence)
MRE11
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia-telangiectasia-like disorder
  • Ataxia-Telangiectasia-Like Disorder
Tags
Green Green List (high evidence)
MT-ATP6
2 reviews
1 red
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neuropathy, Ataxia, and Retinitis Pigmentosa
Tags
Green Green List (high evidence)
MTTP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Abetalipoproteinemia, 200100
Tags
Green Green List (high evidence)
NHLRC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
Green Green List (high evidence)
NIPA1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 6, autosomal dominant
  • Spasticparaplegia6,autosomaldominant,600363
Tags
Green Green List (high evidence)
NKX6-2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
Green Green List (high evidence)
NOP56_GGCCTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 36 614153
Tags
  • STR
Green Green List (high evidence)
NOTCH3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dementia
Tags
Green Green List (high evidence)
NPC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Niemann-Pick disease types C1 and D (#257220)
Tags
Green Green List (high evidence)
NPC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • Niemann-Pick disease type C2 (#607625)
Tags
Green Green List (high evidence)
NT5C2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 45, autosomal recessive, 613162
Tags
Green Green List (high evidence)
OPA3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Costeff syndrome
  • 3-methylglutaconic aciduria, type III, 258501
Tags
Green Green List (high evidence)
OPHN1
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 Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Tags
Green Green List (high evidence)
OPTN
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glaucoma 1, open angle, E, 137760
  • Amyotrophic Lateral Sclerosis, Recessive
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
  • Dystonia
  • Neurodegeneration with brain iron accumulation 1
  • 234200
  • Early Onset Complex Disease
  • pantothenate kinase-associated neurodegeneration
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
  • 606324
  • Parkinson disease 7, autosomal recessive early-onset
Tags
Green Green List (high evidence)
PAX6
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Aniridia, Cerebellar Ataxia, And Mental Retardation
Tags
Green Green List (high evidence)
PDGFB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
PDGFRB
2 reviews
1 green
Unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
PDYN
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 23
Tags
Green Green List (high evidence)
PEX16
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Zellweger syndrome (614876)
  • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Tags
Green Green List (high evidence)
PFN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyotrophic lateral sclerosis 18, 614808
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, 605909
  • Dystonia
  • Parkinson Disease 6, Autosomal Recessive Early-Onset
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
  • Infantile neuroaxonal dystrophy 1, 256600
  • PLA2G6-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 2B, 610217
  • Infantile neuroaxonal dystrophy 1 (#256600)
  • Neurodegeneration with brain iron accumulation 2B (#610217)
  • Parkinson disease 14 (#612953)
  • Parkinson disease 14, 612953
  • Early Onset Complex Disease
Tags
Green Green List (high evidence)
PLP1
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • Spastic paraplegia 2, X-linked
Tags
Green Green List (high evidence)
PMPCA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Tags
Green Green List (high evidence)
PNKD
2 reviews
1 red
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)
PNKP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia with oculomotor apraxia 4 (#616267)
Tags
Green Green List (high evidence)
PNPLA6
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
  • Spastic paraplegia 39, autosomal recessive
  • Oliver-McFarlane syndrome (#603197)
  • Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Tags
Green Green List (high evidence)
POLG
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Tags
Green Green List (high evidence)
POLR3A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • Autosomal Recessive Ataxia
Tags
Green Green List (high evidence)
PPP2R2B_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 12 604326
Tags
  • STR
Green Green List (high evidence)
PRKCG
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 14
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
  • Dystonia
  • Parkinson Disease 2, Autosomal Recessive Juvenile
  • juvenile parkinsonism/dystonia
  • Parkinson Disease, 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 (DYT16), non-responsive to levo-dopa
  • Early-Onset Generalized Dystonia-Parkinsonism
  • Dystonia 16
  • Dystonia
  • Dystonia 16, 612067
  • early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
  • Early Onset Complex Disease
Tags
Green Green List (high evidence)
PRNP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Creutzfeldt-Jakob disease
  • Autosomal Dominant Ataxia
  • Insomnia, fatal familial
  • Huntington disease-like 1
  • Clinical syndrome Prion disease
  • Dementia
  • Gerstmann-Straussler disease
Tags
Green Green List (high evidence)
PRRT2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • dystonia and occasionally hemiplegic migraine and epilepsy
  • episodic kinesigenic dyskinesia
  • EPISODIC KINESIGENIC DYSKINESIA 1
  • CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
  • Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
  • SEIZURES, BENIGN FAMILIAL INFANTILE, 2
  • Episodic kinesigenic dyskinesia 1, 128200
Tags
  • treatable
Green Green List (high evidence)
PSEN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Acne inversa, familial, 3, 613737
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
  • Dystonia
  • Dementia, frontotemporal, 600274
  • Pick disease, 172700
  • Clinical syndrome Alzheimer disease
  • Alzheimer disease, type 3, 607822
  • Cardiomyopathy, dilated, 1U, 613694
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia
Tags
Green Green List (high evidence)
PSEN2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dementia
Tags
Green Green List (high evidence)
RAB39B
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 Green
  • London North GLH
  • NHS GMS
Phenotypes
  • early-onset parkinsonism and intellectual disability
  • ?Waisman syndrome
Tags
Green Green List (high evidence)
RARS2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • epilepsy
  • Pontocerebellar hypoplasia
Tags
Green Green List (high evidence)
REEP1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 31, autosomal dominant
Tags
Green Green List (high evidence)
RNF170
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia, sensory, 1, autosomal dominant
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, 212840
Tags
Green Green List (high evidence)
RTN2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 12, autosomal dominant
Tags
Green Green List (high evidence)
SACS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type
Tags
Green Green List (high evidence)
SAR1B
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Chylomicron retention disease 246700
Tags
  • treatable
Green Green List (high evidence)
SCN1A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • several epilepsy, convulsion and migraine disorders.
  • familial hemiplegic migraine 3
  • Dravet syndrome
Tags
Green Green List (high evidence)
SCN8A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • epilepsy
  • Cognitive impairment with or without cerebellar ataxia, 614306
  • paroxysmal kinesigenic dyskinesias
Tags
Green Green List (high evidence)
SEPSECS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia type 2D (613811)
Tags
Green Green List (high evidence)
SERAC1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • MEGDEL syndrome
  • MEGDHEL syndrome
Tags
Green Green List (high evidence)
SETX
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyotrophic lateral sclerosis 4, juvenile 602433
  • ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
  • Ataxia-ocular apraxia-2
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)
SIGMAR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyotrophic lateral sclerosis 16, juvenile, 614373
Tags
Green Green List (high evidence)
SIL1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Green Green List (high evidence)
SLC16A2
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
SLC1A3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • EPISODIC ATAXIA, TYPE 6
  • Episodic ataxia, type 6,
Tags
Green Green List (high evidence)
SLC1A4
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Tags
Green Green List (high evidence)
SLC20A2
2 reviews
1 green
Unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
SLC25A46
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB 616505
Tags
Green Green List (high evidence)
SLC2A1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • GLUT1 DEFICIENCY SYNDROME 1
  • dystonia 9
  • GLUT1 deficiency syndrome 1, infantile onset, severe
  • EPILEPSY, IDIOPATHIC GENERALIZED
  • Dystonia
  • GLUT1 deficiency syndrome 2, childhood onset
  • GLUT1 deficiency syndrome 1, 606777
  • paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
  • GLUT1 deficiency syndrome 1
  • GLUT1 deficiency syndrome 2
  • spastic paraplegia
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 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Tags
  • treatable
Green Green List (high evidence)
SLC39A14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypermanganesemia with dystonia 2 617013
Tags
Green Green List (high evidence)
SLC52A2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2
Tags
  • treatable
Green Green List (high evidence)
SLC52A3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Fazio-Londe disease
  • Brown-Vialetto-Van Laere syndrome 1
Tags
Green Green List (high evidence)
SLC6A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135
  • {Nicotine dependence, protection against}, 188890
Tags
Green Green List (high evidence)
SLC6A5
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperekplexia 3, 614618
Tags
Green Green List (high evidence)
SLC9A6
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 Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, 300243
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)
  • Parkinson disease 4, 605543
  • Parkinson disease 1, 168601
  • Dementia, Lewy body, 127750
Tags
  • gene-duplication
Green Green List (high evidence)
SNX14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive spinocerebellar ataxia (#616354)
Tags
Green Green List (high evidence)
SOD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyotrophic lateral sclerosis 1, 105400
  • amyotrophic lateral sclerosis
  • Amyotrophic Lateral Sclerosis, Dominant
Tags
Green Green List (high evidence)
SPART
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
SPAST
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 4, autosomal dominant
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
  • early onset parkinsonism, levo dopa responsve
  • Spastic paraplegia 11, autosomal recessive
  • Complex parkinsonism
  • hereditary spastic paraparesis
  • Early Onset Complex Disease
Tags
Green Green List (high evidence)
SPG21
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic Paraplegia, Recessive
Tags
Green Green List (high evidence)
SPG7
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
  • Spastic paraplegia 7, autosomal recessive
Tags
Green Green List (high evidence)
SPR
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • paediatric form of dopa responsive dystonia
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
  • Dopa-Responsive Dystonia
Tags
  • treatable
Green Green List (high evidence)
SPTBN2
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
  • Spinocerebellar Ataxia, Dominant
  • Spinocerebellar ataxia, autosomal recessive 14
  • SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
  • Spinocerebellar ataxia 5
Tags
Green Green List (high evidence)
SQSTM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
SRD5A3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Iq, 612379
  • Kahrizi syndrome, 612713
Tags
Green Green List (high evidence)
STUB1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16
Tags
Green Green List (high evidence)
SYNE1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellar Ataxia
  • Spinocerebellar ataxia, autosomal recessive 8
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, 615530
  • Early Onset Complex Disease
  • juvenile Parkinsonism
  • Parkinson disease 20, early-onset
Tags
Green Green List (high evidence)
TAF1
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
  • SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
  • Dystonia-Parkinsonism, X-linked, 314250
Tags
  • sva
Green Green List (high evidence)
TARDBP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyotrophic Lateral Sclerosis, Dominant
  • Frontotemporal Dementia
  • Amyotrophic lateral sclerosis 10, with or without FTD, 612069
Tags
  • polygenic
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
  • FTLD
  • ALS
  • fronto-temporal dementia
  • Amyotrophic lateral sclerosis
Tags
Green Green List (high evidence)
TBP_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Green Green List (high evidence)
TGM6
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 35, 613908
Tags
Green Green List (high evidence)
TH
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Segawa syndrome
  • DOPA-responsive dystonia
  • infantile parkinsonism
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
Tags
  • treatable
Green Green List (high evidence)
THAP1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629
  • DYT6
Tags
Green Green List (high evidence)
TMEM240
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 21, 607454
Tags
Green Green List (high evidence)
TOR1A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • primary torsion dystonia (DYT1), early-onset isolated dystonia
  • Dystonia-1, torsion, 128100
  • Autosomal dominant or sporadic dystonia (DYT1)
  • Early-Onset Primary Dystonia
Tags
Green Green List (high evidence)
TPP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2, 204500
  • Spinocerebellar ataxia, autosomal recessive 7, 609270
Tags
Green Green List (high evidence)
TREM2
2 reviews
1 green
Unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dementia
  • Dystonia
Tags
Green Green List (high evidence)
TSEN2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia 2B, 612389
Tags
Green Green List (high evidence)
TSEN54
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia 2A, 277470
  • Pontocerebellar hypoplasia 4, 225753
Tags
Green Green List (high evidence)
TTBK2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 11
Tags
Green Green List (high evidence)
TTC19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Green Green List (high evidence)
TTPA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia with isolated vitamin E deficiency
  • Ataxia with Vitamin E Deficiency
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
  • Leukodystrophy, hypomyelinating, 6 612438
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • hypomyelinating leukodystrophy 6
  • Implicated autosomal dominant variants in two families with ataxia
  • Dystonia
  • Torsion dystonia 4 (128101) - some individuals with ataxia
  • ataxia
  • hereditary whispering dysphonia
  • Complex parkinsonism
  • hypomyelinating leukodystrophy 6 (612438) - ataxia reported.
  • Dystonia 4, torsion, autosomal dominant 128101
Tags
Green Green List (high evidence)
TWNK
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar Ataxia, Recessive
  • Ataxia Neuropathy Spectrum Disorders, Dominant
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
  • Perrault syndrome 5, 616138
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Tags
Green Green List (high evidence)
TYROBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dementia
Tags
Green Green List (high evidence)
UBQLN2
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
  • Amyotrophic Lateral Sclerosis, Dominant
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857
Tags
Green Green List (high evidence)
VAC14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054
Tags
Green Green List (high evidence)
VAPB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyotrophic lateral sclerosis 8, 608627
  • Amyotrophic Lateral Sclerosis, Dominant
Tags
Green Green List (high evidence)
VCP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
  • familial amyotrophic lateral sclerosis (ALS14)
  • Amyotrophic Lateral Sclerosis, Dominant
Tags
Green Green List (high evidence)
VLDLR
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
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
  • Complex parkinsonism
  • 200150
  • Choreoacanthocytosis
Tags
Green Green List (high evidence)
VPS13D
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, 607317
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, 614203
  • Parkinson Disease, Dominant
  • late onset parkinson disease
  • PARKINSON DISEASE 17
  • PARK17
Tags
  • missense
Green Green List (high evidence)
VRK1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia 1A (#607596)
Tags
Green Green List (high evidence)
WASHC5
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 8, autosomal dominant
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
  • Dystonia
  • beta-propeller protein-associated neurodegeneration
Tags
Green Green List (high evidence)
WDR45B
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Tags
Green Green List (high evidence)
WDR73
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature
  • Galloway-Mowat syndrome 1, 251300
Tags
Green Green List (high evidence)
WDR81
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Tags
Green Green List (high evidence)
WFS1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Wolfram syndrome 1, 222300
Tags
Green Green List (high evidence)
WWOX
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12, 614322
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
Tags
Green Green List (high evidence)
YY1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Gabriele-de Vries syndrome 617557
Tags
Green Green List (high evidence)
ZFYVE26
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 15, autosomal recessive
  • Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.
Tags
Amber Amber List (moderate evidence)
CHCHD2
3 reviews
1 green 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
  • 616710
Tags
Amber Amber List (moderate evidence)
COG5
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Congenital disorder of glycosylation, type IIi 613612
Tags
Amber Amber List (moderate evidence)
DMXL2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Sensorineural Hearing Loss
  • ORPHA90636
  • OMIM:612186
Tags
Amber Amber List (moderate evidence)
GCH1
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dopa-Responsive Dystonia (DRD)
  • progressive spastic paraplegia
  • Dystonia
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Spastic paraplegia
Tags
Amber Amber List (moderate evidence)
IBA57
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Spastic paraplegia 74, autosomal recessive, 616451
Tags
Amber Amber List (moderate evidence)
KDM5C
4 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 Amber
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534
  • Intellectual disability
  • developmental delay
  • progressive spasticity
  • epilepsy
  • hypothyroidism
Tags
Amber Amber List (moderate evidence)
MAG
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, 616680
Tags
  • watchlist
Amber Amber List (moderate evidence)
NEFH
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • susceptibility to amyotrophic lateral sclerosis (ALS)
Tags
Amber Amber List (moderate evidence)
REEP2
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Spastic paraplegia 72, autosomal recessive, 615625
  • ?Spastic paraplegia 72, autosomal dominant,615625
Tags
Amber Amber List (moderate evidence)
VAMP1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spastic ataxia 1, autosomal dominant, 108600
Tags
  • founder-effect
  • watchlist
Red Red List (low evidence)
AARS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
ACTB
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Tags
Red Red List (low evidence)
ALAS2
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
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
ARL6IP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
ARSI
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
ARX
2 reviews
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ATN1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATP2B3
2 reviews
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
Tags
Red Red List (low evidence)
ATP6AP2
2 reviews
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
  • watchlist
Red Red List (low evidence)
ATP8A2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
ATXN1
2 reviews
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellarataxia1,164400
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN10
2 reviews
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellarataxia10,603516
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
  • watchlist
Red Red List (low evidence)
ATXN2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellar ataxia 2, 183090
  • familial parkinsonism
  • {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090
  • Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090
  • (CAGexpansion)
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • familial parkinsonism
  • (CAGexpansion)
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN7
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellarataxia7,164500
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN8
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellar ataxia 8 608768
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
BEAN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 31 117210
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
  • structural-variant
Red Red List (low evidence)
C9orf72
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • complex parkinsonism
  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • (Hexanucleotideexpansion)
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
  • Frontotemporal Dementia, Amyotrophic Lateral Sclerosis
  • Hexanucleotide repeat expansion
  • amyotrophic lateral sclerosis
  • frontotemporal dementia
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
CCDC88C
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • autosomal dominant spinocerebellar ataxia
Tags
Red Red List (low evidence)
CCT5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia
  • Sensory Neuropathy with Spastic Paraplegia
Tags
Red Red List (low evidence)
CDK16
3 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Intellectual disability and spastic paraplegia
Tags
Red Red List (low evidence)
CIZ1
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia 23, 614860
Tags
Red Red List (low evidence)
CLP1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Pontocerebellar hypoplasia 10, 615803
Tags
Red Red List (low evidence)
DAB1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellar ataxia 37 615945
Tags
  • currently-ngs-unreportable
  • founder-effect
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DRD2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia, myoclonic, 159900
Tags
Red Red List (low evidence)
DRD5
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • {Blepharospasm, primary benign}, 606798
Tags
Red Red List (low evidence)
DSTYK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 23, 270750
Tags
  • founder-effect
Red Red List (low evidence)
DYNC1H1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Charcot Marie Tooth, SMA, Intellectual disability
Tags
Red Red List (low evidence)
EARS2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
EIF4G1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Parkinsons disease 18, 614251
Tags
Red Red List (low evidence)
ELOVL5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 36 (#615957)
Tags
Red Red List (low evidence)
ENTPD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spasticparaplegia64,615683
Tags
Red Red List (low evidence)
ERBB4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Amyotrophic lateral sclerosis 19, 615515
Tags
Red Red List (low evidence)
ERCC6
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FASTKD2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FOXG1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FOXRED1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
GAD1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Cerebralpalsy,spasticquadriplegic,1,603513
Tags
Red Red List (low evidence)
GAMT
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
GCDH
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
GIGYF2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • {Parkinson disease 11}
  • Susceptibility to Parkinson disease 11, 607688
Tags
Red Red List (low evidence)
HFE
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
HPRT1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
HTT
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Huntington disease 143100
  • Huntingtons disease (HD)
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
IPPK
2 reviews
1 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)
JPH3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
KCNK18
3 reviews
2 red
Unknown
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)
KLC4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • spastic paraplegia
  • progressive complicated spastic paraplegia
Tags
Red Red List (low evidence)
L2HGDH
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MARS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
MAT1A
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MCOLN1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MMADHC
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MPV17
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MR1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia
  • Paroxysmal/Episodic dystonia
Tags
Red Red List (low evidence)
MT-ND6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Leber Optic Atrophy And Dystonia
Tags
Red Red List (low evidence)
MTPAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ataxia, spastic, 4,
  • Ataxia, spastic, 4
  • Spastic ataxia 4, autosomal recessive
Tags
Red Red List (low evidence)
MVK
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Mevalonic aciduria 610377
Tags
Red Red List (low evidence)
NAGLU
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
Tags
Red Red List (low evidence)
NDUFA12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leigh syndrome due to mitochondrial complex 1 deficiency 256000
Tags
Red Red List (low evidence)
NKX2-1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Chorea, hereditary benign 118700
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Tags
Red Red List (low evidence)
NOP56
0 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia36,614153
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
NR4A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Parkinson Disease, Dominant/Recessive (susceptibility to)
Tags
Red Red List (low evidence)
PAX2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ataxia,spastic2,autosomalrecessive(2)
Tags
Red Red List (low evidence)
PCDH12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • microcephaly
  • intellectual disability
  • perithalamic hyperechogenicity
  • hypothalamic abnormalities
  • periventricular hyperechogenicity
  • epilepsy
  • midbrain abnormalities
Tags
  • founder-effect
Red Red List (low evidence)
PCLO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Tags
Red Red List (low evidence)
PDHX
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PGAP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PIK3R5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ataxia-oculomotor apraxia 3
Tags
Red Red List (low evidence)
PNPT1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PPP2R2B
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia12,604326
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
  • watchlist
Red Red List (low evidence)
PRICKLE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Progressive Myoclonus Epilepsy with Ataxia
Tags
Red Red List (low evidence)
PTEN
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PTS
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
QDPR
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RAB3GAP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • spastic paraplegia
Tags
Red Red List (low evidence)
RELN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
RNASEH2A
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2B
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2C
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RUBCN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SAMHD1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SCN9A
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Erythermalgia, primary, 133020
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Congenital Indifference to Pain
  • Paroxysmal Extreme Pain Disorder
  • Dysosteosclerosis
  • Insensitivity to pain, channelopathy-associated, 243000
  • Hereditary Sensory Neuropathy
  • Paroxysmal extreme pain disorder, 167400
  • Febrile seizures, familial, 3B, 613863
  • Erythermalgia, Primary
Tags
Red Red List (low evidence)
SCP2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, 613724
Tags
Red Red List (low evidence)
SDHAF1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SLC19A3
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SLC33A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 42, autosomal dominant,
Tags
Red Red List (low evidence)
SLC41A1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Parkinson disease (Yan (2011) Int J Neurosci 121,632)
Tags
Red Red List (low evidence)
SLC46A1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SLC52A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Riboflavin deficiency (condition resembling childhood-onset motor neurone disease)
Tags
Red Red List (low evidence)
SNCAIP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Parkinson Disease, Dominant/Recessive
Tags
Red Red List (low evidence)
SNCB
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dementia, Lewy body, 127750
Tags
Red Red List (low evidence)
SUCLA2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SUOX
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SYT14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia,autosomalrecessive11,614229
Tags
Red Red List (low evidence)
TBP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 17, 607136
  • Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600
  • {Parkinson disease, susceptibility to}, 168600
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
TDP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Tags
Red Red List (low evidence)
TECPR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 49, autosomal recessive, 615031
Tags
Red Red List (low evidence)
TFG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TIA1
2 reviews
1 red
Not set
Sources
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
TIMM8A
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Deafness-Dystonia-Optic Neuronopathy Syndrome
Tags
Red Red List (low evidence)
TPK1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
TREX1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
TSEN34
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 2C (612390)
Tags
Red Red List (low evidence)
UBR4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Episodic ataxia
Tags
Red Red List (low evidence)
UCHL1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?{Parkinson disease 5, susceptibility to}
  • Early onset ataxia and optic neuropathy
Tags
Red Red List (low evidence)
UNC13A
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
USP8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
VEGFA
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
VPS37A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
  • Spastic paraplegia 53, autosomal recessive
Tags
Red Red List (low evidence)
VPS53
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 2E (#615851)
Tags
Red Red List (low evidence)
WDR48
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
XRCC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
Tags
Red Red List (low evidence)
ZEB2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ZFYVE27
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 33, autosomal dominant
Tags
Red Red List (low evidence)
ZNF592
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5
Tags

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