The latest signed off version for the GMS is v9.3. The current version, shown here, may differ from the signed-off version.

Adult-onset neurological disorders (Version 9.4)

Level 2: Neurology

Relevant disorders: R54, R56, R60, R458, R459, R460, R461, Hereditary ataxia with onset in adulthood, Adult onset dystonia, chorea or related movement disorder, Adult onset hereditary spastic paraplegia, Young onset or familial dementia, Young onset or complex Parkinson disease, Amyotrophic lateral sclerosis, Cerebral amyloid angiopathy
This panel contains these 4 panels:
Adult onset neurodegenerative disorder v9.1
Hereditary ataxia with onset in adulthood v9.1
Adult onset hereditary spastic paraplegia v6.11
Adult onset dystonia, chorea or related movement disorder v6.1
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Latest signed off version: v9.3 (6 May 2026)

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 following clinical indications, but can also be used as part of the analysis for a broader clinical presentation, where relevant:
- R54 Hereditary ataxia with onset in adulthood
- R56 Adult onset dystonia, chorea or related movement disorder
- R60 Adult onset hereditary spastic paraplegia
- R458 Young onset or familial dementia
- R459 Young onset or complex Parkinson disease
- R460 Amyotrophic lateral sclerosis
- R461 Cerebral amyloid angiopathy

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/. 

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

This panel is a super panel composed of constituent panels as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel and the version will be updated. 

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This is comprised of:
- Hereditary ataxia with onset in adulthood, v9.0 https://panelapp.genomicsengland.co.uk/api/v1/panels/466/?version=9.0
- Adult onset dystonia, chorea or related movement disorder, v6.0 https://panelapp.genomicsengland.co.uk/api/v1/panels/540/?version=6.0
- Adult onset neurodegenerative disorder, v9.0 https://panelapp.genomicsengland.co.uk/api/v1/panels/474/?version=9.0
- Adult onset hereditary spastic paraplegia, v6.10 https://panelapp.genomicsengland.co.uk/api/v1/panels/567/?version=6.10

1056 Entities

1009 reviewed, 451 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1056 Entitiess
Green List (high evidence)	AAAS Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 Triple-A syndrome, MONDO:0009279 Tags
Green List (high evidence)	ABCD1 Adult onset neurodegenerative disorder v9.1	5 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list Phenotypes Adrenoleukodystrophy, adult, OMIM:300100 Tags
Green List (high evidence)	ABCD1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Adrenoleukodystrophy, OMIM:300100 Adrenoleukodystrophy, adult, OMIM:300100 Adrenal failure VLCFA accumulation Spastic paraparesis Tags
Green List (high evidence)	ABHD12 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 Tags
Green List (high evidence)	ACTB Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS South West GLH Phenotypes Dystonia, juvenile-onset, OMIM:607371 developmental malformations-deafness-dystonia syndrome MONDO:0011823 Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470 Tags
Green List (high evidence)	ADAR Adult onset hereditary spastic paraplegia v6.11	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Tags
Green List (high evidence)	ADCY5 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Familial dyskinesia 606703 Dyskinesia with facial myokymia Tags
Green List (high evidence)	AFG3L2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Ataxia, spastic, 5, autosomal recessive, OMIM:614487 Dystonia Tags
Green List (high evidence)	AFG3L2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green List (high evidence)	AFG3L2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green List (high evidence)	ALDH18A1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 9B, autosomal recessive 616586 SPG9 ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT Cutis laxa, autosomal dominant 3 616603 Spastic paraplegia 9A, autosomal dominant 601162 Cutis laxa, autosomal recessive, type IIIA 219150 Tags
Green List (high evidence)	ALS2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Tags
Green List (high evidence)	ANG Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 9, 611895 Tags
Green List (high evidence)	ANO10 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia autosomal recessive type 10, 613728 Spinocerebellar ataxia, autosomal recessive 10 Tags
Green List (high evidence)	ANO3 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 24 OMIM:615034 dystonia 24 MONDO:0014019 Tags
Green List (high evidence)	ANXA11 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 23, OMIM:617839 Tags founder-effect
Green List (high evidence)	AP5Z1 Adult onset hereditary spastic paraplegia v6.11	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic Paraplegia, Recessive Spastic paraplegia 48, autosomal recessive, 613647 Spastic paraplegia 48, autosomal recessive Tags
Green List (high evidence)	APP Adult onset neurodegenerative disorder v9.1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Alzheimer disease 1, familial, OMIM:104300 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714 Tags
Green List (high evidence)	APTX Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920 ataxia with oculomotor apraxia type 1 MONDO:0008842 Tags
Green List (high evidence)	APTX Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Ataxia with Oculomotor Apraxia Early onset ataxia with oculomotor apraxia and hypoalbuminemia Tags
Green List (high evidence)	AR_CAG STR Adult onset neurodegenerative disorder v9.1	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 Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green List (high evidence)	ARMC9 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Joubert syndrome 30, 617622 Tags
Green List (high evidence)	ARSA Adult onset dystonia, chorea or related movement disorder v6.1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Metachromatic leukodystrophy, OMIM:250100 metachromatic leukodystrophy, juvenile form, MONDO:0009591 Tags
Green List (high evidence)	ARSA Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Metachromatic leukodystrophy, OMIM:250100 Dystonia Tags
Green List (high evidence)	ARSA Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Metachromatic leukodystrophy (#250100) Metachromatic Leukodystrophy, 250100 Tags
Green List (high evidence)	ATCAY Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ataxia, cerebellar, Cayman type OMIM:601238 Cayman type cerebellar ataxia MONDO:0011025 Tags
Green List (high evidence)	ATL1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 3A, 182600 autosomal dominant Spastic Paraplegia, Dominant Neuropathy, hereditary sensory, type ID, 613708 Tags
Green List (high evidence)	ATM Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Ataxia-telangiectasia OMIM:208900 ataxia telangiectasia MONDO:0008840 Tags
Green List (high evidence)	ATM Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ataxia-telangiectasia, OMIM:208900 Tags
Green List (high evidence)	ATN1_CAG STR Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags STR
Green List (high evidence)	ATN1_CAG STR Adult onset neurodegenerative disorder v9.1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH London North GLH Expert list Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags STR
Green List (high evidence)	ATN1_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags STR
Green List (high evidence)	ATP13A2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Kufor-Rakeb Syndrome OMIM:606693 Kufor-Rakeb syndrome MONDO:0011706 Tags
Green List (high evidence)	ATP13A2 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Kufor-Rakeb syndrome, OMIM:606693 Dystonia Spastic paraplegia 78, autosomal recessive, OMIM:617225 Tags
Green List (high evidence)	ATP13A2 Adult onset hereditary spastic paraplegia v6.11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH South West GLH Expert Review Green NHS GMS London North GLH Phenotypes Kufor-Rakeb syndrome, 606693 AR Adult-onset lower-limb predominant spastic paraparesis Spastic paraplegia 78, autosomal recessive, 617225 complicated hereditary spastic paraplegia Tags
Green List (high evidence)	ATP1A2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes familial basilar migraine OMIM:602481 familial hemiplegic migraine type 2 OMIM:602481 migraine, familial hemiplegic, 2 MONDO:0011232 alternating hemiplegia of childhood OMIM:104290 alternating hemiplegia of childhood 1 MONDO:0007087 Tags
Green List (high evidence)	ATP1A2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Alternating hemiplegia of childhood 1, 104290 Familial hemiplegic migraine 2, 602481 Tags treatable
Green List (high evidence)	ATP1A3 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OMIM:614820 CAPOS syndrome, OMIM:601338 DYSTONIA 12, OMIM:128235 Rapid-Onset Dystonia-Parkinsonism Tags treatable
Green List (high evidence)	ATP1A3 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Alternating hemiplegia of childhood 2 OMIM:614820 alternating hemiplegia of childhood 2 MONDO:0013900 CAPOS syndrome OMIM:601338 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038 Dystonia-12 OMIM:128235 dystonia 12 MONDO:0007496 Tags
Green List (high evidence)	ATP1A3 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Alternating hemiplegia of childhood 2, 614820 Dystonia-12, 128235 Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 CAPOS syndrome, 601338 DYSTONIA 12, 128235 Tags treatable
Green List (high evidence)	ATP7B Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Wilson disease 277900 Wilson disease, 277900 Tags treatable
Green List (high evidence)	ATP7B Adult onset neurodegenerative disorder v9.1	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Wilson disease, OMIM: 277900 Dystonia Tags treatable
Green List (high evidence)	ATP7B Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Wilson disease OMIM:277900 Wilson disease MONDO:0010200 Tags
Green List (high evidence)	ATXN10_ATTCT STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags STR
Green List (high evidence)	ATXN10_ATTCT STR Adult onset hereditary spastic paraplegia v6.11	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH London North GLH Expert list Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags STR
Green List (high evidence)	ATXN10_ATTCT STR Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH London North GLH Expert list Phenotypes Spinocerebellar ataxia 10, OMIM:603516 spinocerebellar ataxia type 10, MONDO:0011330 Tags STR
Green List (high evidence)	ATXN1_CAG STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green List (high evidence)	ATXN1_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green List (high evidence)	ATXN1_CAG STR Adult onset dystonia, chorea or related movement disorder v6.1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green List (high evidence)	ATXN2_CAG STR Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH London North GLH Expert list Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags STR
Green List (high evidence)	ATXN2_CAG STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 Tags STR
Green List (high evidence)	ATXN2_CAG STR Adult onset dystonia, chorea or related movement disorder v6.1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS London North GLH Expert list Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags STR
Green List (high evidence)	ATXN2_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 2, OMIM:183090 Tags STR
Green List (high evidence)	ATXN3_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Green List (high evidence)	ATXN3_CAG STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Green List (high evidence)	ATXN3_CAG STR Adult onset dystonia, chorea or related movement disorder v6.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS London North GLH Expert list Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Green List (high evidence)	ATXN7_CAG STR Adult onset neurodegenerative disorder v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH London North GLH Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 autosomal dominant cerebellar ataxia type II, MONDO:0016163 Tags STR
Green List (high evidence)	ATXN7_CAG STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
Green List (high evidence)	ATXN7_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
Green List (high evidence)	AUH Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type I, OMIM:250950 Tags
Green List (high evidence)	AUH Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS South West GLH Phenotypes Dystonia Tags
Green List (high evidence)	B3GALNT2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Muscular dystrophy-dystroglycanopathy type A11, 615181 Tags
Green List (high evidence)	B4GALNT1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 Tags
Green List (high evidence)	BICD2 Adult onset hereditary spastic paraplegia v6.11	9 reviews 7 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH Expert list South West GLH NHS GMS Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 Tags
Green List (high evidence)	BRF1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Cerebrofaciodental syndrome Tags
Green List (high evidence)	BSCL2 Adult onset hereditary spastic paraplegia v6.11	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Silver spastic paraplegia syndrome, OMIM:270685 Neuropathy, distal hereditary motor, type VC, OMIM:619112 Tags
Green List (high evidence)	C19orf12 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes ?Spastic paraplegia 43, autosomal recessive OMIM:615043 hereditary spastic paraplegia 43 MONDO:0014024 Neurodegeneration with brain iron accumulation 4 OMIM:614298 neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green List (high evidence)	C19orf12 Adult onset neurodegenerative disorder v9.1	7 reviews 4 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
Green List (high evidence)	C19orf12 Adult onset hereditary spastic paraplegia v6.11	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
Green List (high evidence)	C9orf72_GGGGCC STR Adult onset neurodegenerative disorder v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags STR
Green List (high evidence)	C9orf72_GGGGCC STR Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags STR
Green List (high evidence)	CA8 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Tags
Green List (high evidence)	CACNA1A Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 Tags nucleotide-repeat-expansion treatable
Green List (high evidence)	CACNA1A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 Tags
Green List (high evidence)	CACNA1A_CAG STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green List (high evidence)	CACNA1A_CAG STR Adult onset neurodegenerative disorder v9.1	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 spinocerebellar ataxia type 6, MONDO:0008457 Tags STR
Green List (high evidence)	CACNA1A_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green List (high evidence)	CACNA1A_CAG STR Adult onset dystonia, chorea or related movement disorder v6.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green List (high evidence)	CACNA1G Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 42, 616795 early-onset SCA42 with neurodevelopmental deficits, 618087 Tags
Green List (high evidence)	CACNA1G Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spinocerebellar ataxia 42, OMIM:616795 Tags
Green List (high evidence)	CAMTA1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia with mental retardation, 614756 Cerebellarataxia, nonprogressive, with mental retardation, 614756 Tags
Green List (high evidence)	CAPN1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spastic paraplegia type 76, 616907 Tags
Green List (high evidence)	CAPN1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 76 autosomal recessive, 616907 Tags
Green List (high evidence)	CASK Hereditary ataxia with onset in adulthood v9.1	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 NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Tags
Green List (high evidence)	CCNF Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, OMIM:619141 Tags
Green List (high evidence)	CHCHD10 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green London North GLH NHS GMS South West GLH Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209 Tags
Green List (high evidence)	CHCHD2 Adult onset neurodegenerative disorder v9.1	5 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Parkinson disease 22, autosomal dominant, OMIM:616710 Tags
Green List (high evidence)	CHMP2B Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795 Dystonia Tags
Green List (high evidence)	CHMP2B Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795 Tags
Green List (high evidence)	CLCN2 Hereditary ataxia with onset in adulthood v9.1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with ataxia, OMIM:615651 Tags
Green List (high evidence)	CLCN2 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with ataxia, OMIM:615651 Tags
Green List (high evidence)	CLN6 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, OMIM:601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300 Tags
Green List (high evidence)	CLN6 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ceroid neuronal lipofuscinosis kufs type, 204300 Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Ceroid neuronal lipofuscinosis 6, 601780 Tags
Green List (high evidence)	COA7 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 Tags
Green List (high evidence)	COASY Adult onset neurodegenerative disorder v9.1	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes COASY protein-associated neurodegeneration Neurodegeneration with brain iron accumulation 6, OMIM:615643 Tags
Green List (high evidence)	COASY Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 12, 618266 Neurodegeneration with brain iron accumulation 6, 615643 Tags
Green List (high evidence)	COG5 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Congenital disorder of glycosylation type 2i, 613612 Congenital disorder of glycosylation, type Iii 613612 Tags
Green List (high evidence)	COL4A1 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Brain small vessel disease with or without ocular anomalies, OMIM:175780 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564 {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 Tags
Green List (high evidence)	COL4A2 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Brain small vessel disease 2, OMIM:614483 {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 Tags
Green List (high evidence)	COQ4 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green List (high evidence)	COQ4 Adult onset hereditary spastic paraplegia v6.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green List (high evidence)	COQ8A Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar Ataxia Type Primary coenzyme Q10 deficiency 4, 612016 Coenzyme Q10 deficiency, primary 4, 612016 Tags
Green List (high evidence)	COX20 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Mitochondrial complex IV deficiency, 220110 Mitochondrial complex IV deficiency Tags
Green List (high evidence)	CP Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Aceruloplasminemia, 604290 Tags
Green List (high evidence)	CP Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dystonia Cerebellar ataxia, OMIM:604290 Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 Tags
Green List (high evidence)	CP Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Cerebellar ataxia, OMIM:604290 Hypoceruloplasminemia, hereditary, OMIM:604290 Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 Tags
Green List (high evidence)	CPT1C Adult onset hereditary spastic paraplegia v6.11	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 73, autosomal dominant, OMIM:616282 Tags
Green List (high evidence)	CSF1R Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Tags
Green List (high evidence)	CSF1R Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Tags adult-onset
Green List (high evidence)	CSTB Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Green List (high evidence)	CSTB_CCCCGCCCCGCG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR
Green List (high evidence)	CSTB_CCCCGCCCCGCG STR Adult onset dystonia, chorea or related movement disorder v6.1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR
Green List (high evidence)	CTSA Adult onset neurodegenerative disorder v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert list Phenotypes Brain small vessel disease 6 with leukoencephalopathy, OMIM:621394 cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 Tags
Green List (high evidence)	CTSF Adult onset neurodegenerative disorder v9.1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 Tags
Green List (high evidence)	CWF19L1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Autosomal recessive spinocerebellar ataxia type 17, 616127 Tags
Green List (high evidence)	CYP27A1 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700 Tags
Green List (high evidence)	CYP27A1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Cerebrotendinous xanthomatosis, 213700 progressive lower extremity spasticity,often disproportionate to any degree of weakness Tags
Green List (high evidence)	CYP27A1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	CYP27A1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700 progressive lower extremity spasticity,often disproportionate to any degree of weakness Tags
Green List (high evidence)	CYP2U1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spastic paraplegia type 56, 615030 Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. Tags
Green List (high evidence)	CYP7B1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spastic paraplegia 5A, autosomal recessive, OMIM:270800 Tags
Green List (high evidence)	CYP7B1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 Tags
Green List (high evidence)	DARS Adult onset hereditary spastic paraplegia v6.11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH South West GLH Expert Review Green NHS GMS London North GLH Phenotypes leg spasticity Brain stem and spinal cord Hypomyelination Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new-gene-name
Green List (high evidence)	DARS2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 Tags
Green List (high evidence)	DARS2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 Tags
Green List (high evidence)	DCAF17 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Woodhouse-Sakati syndrome, OMIM:241080 Tags
Green List (high evidence)	DCTN1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Neuropathy, distal hereditary motor, type VIIB, OMIM:607641 Perry syndrome, OMIM:168605 {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400 Tags
Green List (high evidence)	DCTN1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Perry syndrome, OMIM:168605 Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641 Tags
Green List (high evidence)	DDHD1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 Tags
Green List (high evidence)	DDHD2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spastic paraplegia 54 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. Tags
Green List (high evidence)	DDHD2 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 Tags
Green List (high evidence)	DNAJB2 Adult onset neurodegenerative disorder v9.1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881 young adult-onset distal hereditary motor neuropathy, MONDO:0013947 Tags
Green List (high evidence)	DNAJC19 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes 3-methylglutaconic aciduria, type V 610198 dilated cardiomyopathy with ataxia (DCMA) syndrome 3-methylglutaconic aciduria type V, 610198 Tags
Green List (high evidence)	DNAJC5 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, OMIM:162350 Tags
Green List (high evidence)	DNAJC5 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ceroid neuronal lipofuscinosis 4, Parry type, 162350 Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 Tags
Green List (high evidence)	DNAJC6 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 19b, early-onset, OMIM:615528 Parkinson disease 19a juvenile-onset, OMIM:615528 juvenile onset Parkinson disease 19A, MONDO:0014231 Tags
Green List (high evidence)	DNAJC6 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 19b, early-onset, OMIM:615528 Parkinson disease 19a juvenile-onset, OMIM:615528 juvenile onset Parkinson disease 19A, MONDO:0014231 Tags
Green List (high evidence)	DNAJC7 Adult onset neurodegenerative disorder v9.1	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes amyotrophic lateral sclerosis Tags gene-checked
Green List (high evidence)	DNMT1 Hereditary ataxia with onset in adulthood v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Cerebellar ataxia, deafness and narcolepsy, 604121 Hereditary sensory neuropathy type IE, 614116 Tags
Green List (high evidence)	DNMT1 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121 Tags
Green List (high evidence)	EIF2B1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green List (high evidence)	EIF2B1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green List (high evidence)	EIF2B2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B3 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green List (high evidence)	EIF2B3 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B4 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green List (high evidence)	EIF2B4 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B5 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green List (high evidence)	EIF2B5 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	ELOVL4 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spinocerebellar ataxia 34, OMIM:133190 Tags
Green List (high evidence)	ELOVL4 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 34, 133190 Spinocerebellar ataxia 34 133190 Tags
Green List (high evidence)	EPM2A Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780 Tags
Green List (high evidence)	EPM2A Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780 Tags
Green List (high evidence)	ERBB4 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 19 OMIM:615515 amyotrophic lateral sclerosis type 19 MONDO:0014223 Tags
Green List (high evidence)	ERCC4 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Xeroderma pigmentosum, group F OMIM:278760 xeroderma pigmentosum group F MONDO:0010215 Tags
Green List (high evidence)	ERLIN2 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia, autosomal dominant neurodegeneration. Spastic paraplegia 18, autosomal recessive, 611225 hereditary spastic paraplegia Tags
Green List (high evidence)	EXOSC3 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green List (high evidence)	EXOSC9 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 1D, 618065 Tags
Green List (high evidence)	FA2H Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319 hereditary spastic paraplegia 35, MONDO:0012866 Tags
Green List (high evidence)	FAT2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Spinocerebellar ataxia 45, OMIM:617769 Tags
Green List (high evidence)	FBXO7 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Parkinson disease 15, autosomal recessive, OMIM:260300 Tags
Green List (high evidence)	FBXO7 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dystonia Parkinson disease 15, autosomal recessive, OMIM:260300 Tags
Green List (high evidence)	FBXO7 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 15, autosomal recessive, OMIM:260300 Tags
Green List (high evidence)	FGF14 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 27 Spinocerebellar ataxia type 27, 609307 Tags
Green List (high evidence)	FLVCR1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Retinopathy-sensory neuropathy syndrome, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 Tags
Green List (high evidence)	FMR1_CGG STR Hereditary ataxia with onset in adulthood v9.1	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 NHS GMS Expert Review Green Expert list Phenotypes Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR
Green List (high evidence)	FOLR1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Neurodegeneration due to cerebral folate transport deficiency Tags
Green List (high evidence)	FTL Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 3, OMIM:606159 Tags
Green List (high evidence)	FTL Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 3, OMIM:606159 Tags
Green List (high evidence)	FUS Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, OMIM:608030 Tags
Green List (high evidence)	FXN Adult onset hereditary spastic paraplegia v6.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags nucleotide-repeat-expansion
Green List (high evidence)	FXN Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags nucleotide-repeat-expansion
Green List (high evidence)	FXN_GAA STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Green List (high evidence)	FXN_GAA STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Green List (high evidence)	GALC Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Krabbe disease, OMIM:245200 Tags
Green List (high evidence)	GBA Adult onset neurodegenerative disorder v9.1	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Gaucher disease, type I, OMIM:230800 Tags new-gene-name treatable
Green List (high evidence)	GBA Adult onset dystonia, chorea or related movement disorder v6.1	7 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags new-gene-name
Green List (high evidence)	GBA2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spastic paraplegia 46, 614409 Spastic paraplegia 46, autosomal recessive, 614409 Tags
Green List (high evidence)	GBA2 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Green List (high evidence)	GBE1 Adult onset neurodegenerative disorder v9.1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Polyglucosan body disease, adult form, OMIM:263570 adult polyglucosan body disease, MONDO:0009897 Tags
Green List (high evidence)	GBE1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polyglucosan body disease, adult form, OMIM:263570 Tags
Green List (high evidence)	GCH1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230 Tags
Green List (high evidence)	GCH1 Adult onset hereditary spastic paraplegia v6.11	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH South West GLH North West GLH Expert Review Green NHS GMS London North GLH Phenotypes Dystonia progressive spastic paraplegia Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Spastic paraplegia Tags
Green List (high evidence)	GCH1 Adult onset neurodegenerative disorder v9.1	6 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230 Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910 Spastic paraplegia Tags
Green List (high evidence)	GDAP2 Hereditary ataxia with onset in adulthood v9.1	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 27, OMIM:618369 spinocerebellar ataxia, autosomal recessive 27, MONDO:0032706 Tags
Green List (high evidence)	GFAP Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Alexander disease, OMIM:203450 Tags
Green List (high evidence)	GFAP Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Autosomal Dominant Ataxia Alexander disease, OMIM:203450 Tags
Green List (high evidence)	GFAP Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal Dominant Ataxia Alexander disease Alexander disease, 203450 Tags
Green List (high evidence)	GJA1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Oculodentodigital dysplasia, OMIM:164200 Spastic paraplegia Tags
Green List (high evidence)	GJC2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukodystrophy, hypomyelinating, 2 Spastic paraplegia 44, 613206 Hypomyelinating leukodystrophy 2, 608804 Autosomal Recessive Ataxia Tags
Green List (high evidence)	GLA Adult onset neurodegenerative disorder v9.1	3 reviews 2 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 NHS GMS Expert list Phenotypes Fabry disease, OMIM:301500 Tags
Green List (high evidence)	GLRA1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Hyperekplexia 1, 149400 Hyperekplexia, hereditary 1, 149400 Tags
Green List (high evidence)	GLRB Hereditary ataxia with onset in adulthood v9.1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Hyperekplexia 2 OMIM:614619 hyperekplexia 2 MONDO:0013828 Tags
Green List (high evidence)	GNAL Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Dystonia 25, OMIM:615073 Tags
Green List (high evidence)	GOSR2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Epilepsy, progressive myoclonic 6, 614018 Progressive myoclonic epilepsy 6, 614018 Tags
Green List (high evidence)	GPAA1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green List (high evidence)	GRID2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Progressive cerebellar ataxia, HP:0002073 Spinocerebellar ataxia, autosomal recessive 18, OMIM:616204 autosomal recessive spinocerebellar ataxia 18, MONDO:0014530 Tags Q1_26_MOI
Green List (high evidence)	GRM1 Hereditary ataxia with onset in adulthood v9.1	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 44, OMIM:617691 Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831 Tags
Green List (high evidence)	GRN Adult onset neurodegenerative disorder v9.1	7 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485 Aphasia, primary progressive, OMIM:607485 Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 Tags
Green List (high evidence)	GRN Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706 neuronal ceroid lipofuscinosis 11 MONDO:0013866 Tags
Green List (high evidence)	GRN Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485 Tags
Green List (high evidence)	GSN Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Amyloidosis, Finnish type, OMIM:105120 Finnish type amyloidosis, MONDO:0007097 Tags
Green List (high evidence)	GTPBP2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Jaberi-Elahi syndrome, OMIM:617988 Tags
Green List (high evidence)	HEXA Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes GM2-gangliosidosis, several forms, OMIM:272800 Tay-Sachs disease, OMIM:272800 Tags
Green List (high evidence)	HEXA Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Tay-Sachs disease, 272800 GM2-gangliosidosis, several forms, 272800 Tags
Green List (high evidence)	HEXB Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green List (high evidence)	HEXB Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green List (high evidence)	HNRNPA1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3, OMIM:615424, Amyotrophic lateral sclerosis 20, OMIM:615426 Tags
Green List (high evidence)	HPCA Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 2, torsion, autosomal recessive, OMIM:224500 Tags
Green List (high evidence)	HTRA1 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes dementia (disease), MONDO:0001627 CARASIL syndrome, OMIM:600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, OMIM:616779 Tags
Green List (high evidence)	HTT_CAG STR Adult onset neurodegenerative disorder v9.1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Huntington disease, OMIM:143100 Tags STR
Green List (high evidence)	IRF2BPL Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 Tags
Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37446-Loss Region Adult onset neurodegenerative disorder v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes DiGeorge syndrome, OMIM:188400 Parkinsonism, HP:0001300 Tags
Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Gain Region Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 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 List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region Adult onset neurodegenerative disorder v9.1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Phenotypes 105830 Angelman syndrome Developmental delay, muscle weakness Mental retardation 176270 microcephaly Prader-Willi syndrome Tags
Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region Hereditary ataxia with onset in adulthood v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes microcephaly 176270 Mental retardation Angelman syndrome Prader-Willi syndrome Developmental delay, muscle weakness 105830 Tags
Green List (high evidence)	ITM2B Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dementia, familial British, OMIM:176500 ABri amyloidosis, MONDO:0008306 Dementia, familial Danish, OMIM:117300 ADan amyloidosis, MONDO:0007297 Tags
Green List (high evidence)	ITPR1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 15, 606658 Gillespie syndrome, 206700 Spinocerebellar ataxia 15 Spinocerebellar ataxia 29 Spinocerebellar ataxia 29, 117360 Tags
Green List (high evidence)	JPH3_CTG STR Adult onset neurodegenerative disorder v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green List (high evidence)	JPH3_CTG STR Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Expert list Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green List (high evidence)	KCNA1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes myokymia with periodic ataxia Episodic ataxia/myokymia syndrome EPISODIC ATAXIA, TYPE 1 Episodic ataxia/myokymia syndrome, 160120 Tags treatable
Green List (high evidence)	KCNA2 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Hereditary spastic paraplegia and ataxia Tags
Green List (high evidence)	KCNA2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Early infantile encephalopathy 32, 616366 Tags
Green List (high evidence)	KCNC3 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spinocerebellar ataxia 13, OMIM:605259 Tags
Green List (high evidence)	KCNC3 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 13, 605259 Spinocerebellar ataxia 13 Tags
Green List (high evidence)	KCND3 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spinocerebellarataxia19, OMIM:607346 Tags
Green List (high evidence)	KCND3 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 19, 607346 Spinocerebellarataxia19, 607346 Tags
Green List (high evidence)	KCNJ10 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes SESAME syndrome, 612780 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome Tags
Green List (high evidence)	KCNQ2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Early infantile encephalopathy 7, 613720 Myokymia, 121200 Tags
Green List (high evidence)	KIAA1161 Adult onset neurodegenerative disorder v9.1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 Tags gene-checked new-gene-name
Green List (high evidence)	KIAA1161 Adult onset dystonia, chorea or related movement disorder v6.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 Tags gene-checked new-gene-name
Green List (high evidence)	KIF1A Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 30, autosomal dominant, OMIM:610357 Spastic paraplegia 30, autosomal recessive, OMIM:610357 NESCAV syndrome, OMIM:614255 Tags
Green List (high evidence)	KIF1C Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spastic ataxia 2, autosomal recessive, OMIM:611302 Tags
Green List (high evidence)	KIF1C Adult onset hereditary spastic paraplegia v6.11	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH South West GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic ataxia 2, autosomal recessive, 611302 Spastic ataxia 2, autosomal recessive Tags
Green List (high evidence)	KIF5A Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spastic paraplegia 10, autosomal dominant, OMIM:604187 Tags
Green List (high evidence)	KIF5A Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 Tags
Green List (high evidence)	KMT2B Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 28, childhood-onset, OMIM:617284 Tags
Green List (high evidence)	LAMB1 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Lissencephaly 5, OMIM:615191 cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 Tags
Green List (high evidence)	LRRK2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes LRRK2 G2019S mutation {Parkinson disease 8}, OMIM:607060 Tags curated-variant-list missense
Green List (high evidence)	LRRK2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes {Parkinson disease 8}, OMIM:607060 Tags
Green List (high evidence)	LYST Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Chediak-Higashi syndrome, OMIM:214500 Tags
Green List (high evidence)	LYST Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Chediak-Higashi syndrome, OMIM:214500 peripheral neuropathy Parkinsonism spastic paraplegia Tags
Green List (high evidence)	MAPT Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Supranuclear palsy, progressive, OMIM:601104 Supranuclear palsy, progressive atypical, OMIM:260540 {Parkinson disease, susceptibility to}, OMIM:168600 Dementia, frontotemporal, with or without parkinsonism, OMIM:600274 Pick disease, OMIM:172700 Tags
Green List (high evidence)	MAPT Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dementia, frontotemporal, with or without parkinsonism, OMIM: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 List (high evidence)	MARS2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spastic ataxia 3, autosomal recessive Autosomal recessive spastic ataxia 3, 611390 Tags cnv gene-duplication
Green List (high evidence)	MFN2 Hereditary ataxia with onset in adulthood v9.1	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 Tags
Green List (high evidence)	MFSD8 Hereditary ataxia with onset in adulthood v9.1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 7 OMIM:610951 neuronal ceroid lipofuscinosis 7 MONDO:0012588 Tags
Green List (high evidence)	MMACHC Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ataxia and hypogonadism Methylmalonic aciduria and homocystinuria cblC type, 277400 Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green List (high evidence)	MRE11 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ataxia-telangiectasia-like disorder 1, 604391 Ataxia-Telangiectasia-Like Disorder Tags
Green List (high evidence)	MSTO1 Hereditary ataxia with onset in adulthood v9.1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Myopathy, mitochondrial, and ataxia OMIM:617675 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 Tags
Green List (high evidence)	MT-ATP6 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MITOCHONDRIAL	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500 Neuropathy, Ataxia, and Retinitis Pigmentosa Tags gene-checked
Green List (high evidence)	MTTP Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Abetalipoproteinemia, 200100 Abetalipoproteinemia Tags
Green List (high evidence)	NAA60 Adult onset neurodegenerative disorder v9.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 Tags
Green List (high evidence)	NAA60 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 Tags
Green List (high evidence)	NEK1 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750 Tags
Green List (high evidence)	NEU1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sialidosis, type I, OMIM:256550 Sialidosis, type II, OMIM:256550 Ataxia Myoclonus Tags
Green List (high evidence)	NHLRC1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780 Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green List (high evidence)	NHLRC1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), OMIM:254780 Tags
Green List (high evidence)	NIPA1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 Tags
Green List (high evidence)	NKX2-1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978 Chorea, hereditary benign, OMIM:118700 Tags
Green List (high evidence)	NKX2-1 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Chorea, hereditary benign 118700 Hereditary bening chorea, 118700 Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 Tags
Green List (high evidence)	NKX6-2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green List (high evidence)	NOP56_GGCCTG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
Green List (high evidence)	NOP56_GGCCTG STR Adult onset neurodegenerative disorder v9.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
Green List (high evidence)	NOTCH3 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 Tags
Green List (high evidence)	NPC1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Niemann-Pick disease type C1, 257220 Niemann-Pick disease types C1 and D (#257220) Tags
Green List (high evidence)	NPC1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Niemann-Pick disease, type C1, OMIM:257220 Niemann-Pick disease, type D, OMIM:257220 Tags
Green List (high evidence)	NPC2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dystonia Niemann-Pick disease, type C2, OMIM:607625 Tags
Green List (high evidence)	NPC2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Niemann-Pick disease type C2 (#607625) Niemann-Pick disease type C2, 607625 Tags
Green List (high evidence)	NPTX1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Spinocerebellar ataxia 50, OMIM:620158 Tags
Green List (high evidence)	OPA1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Optic atrophy plus syndrome, OMIM:125250 Behr syndrome, OMIM:210000 Tags
Green List (high evidence)	OPA3 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD Tags
Green List (high evidence)	OPA3 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria, type III, 258501 3-methylglutaconic aciduria type III, 258501 Costeff syndrome Tags
Green List (high evidence)	OPHN1 Hereditary ataxia with onset in adulthood v9.1	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 NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green List (high evidence)	OPTN Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, OMIM:613435 Tags
Green List (high evidence)	PACS2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Early infantile epileptic encephalopathy 66, 618067 Tags
Green List (high evidence)	PANK2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 1, OMIM:234200 Tags
Green List (high evidence)	PANK2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dystonia Neurodegeneration with brain iron accumulation 1, OMIM:234200 Tags
Green List (high evidence)	PARK7 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 7, autosomal recessive early-onset, OMIM:606324 Tags
Green List (high evidence)	PARK7 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 7, autosomal recessive early-onset, OMIM:606324 Tags
Green List (high evidence)	PCYT2 Adult onset hereditary spastic paraplegia v6.11	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 82, autosomal recessive, 618770 Tags
Green List (high evidence)	PDGFB Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 5, OMIM:615483 Tags
Green List (high evidence)	PDGFB Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Basal ganglia calcification, idiopathic, 5, OMIM:615483 Tags
Green List (high evidence)	PDGFRB Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS London North GLH Phenotypes Basal ganglia calcification, idiopathic, 4, OMIM:615007 Tags
Green List (high evidence)	PDGFRB Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Dystonia Basal ganglia calcification, idiopathic, 4, OMIM:615007 Tags
Green List (high evidence)	PEX16 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Peroxisome biogenesis disorder 8B, 614877 Peroxisome biogenesis disorder 8A, 614876 Tags
Green List (high evidence)	PEX6 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green List (high evidence)	PFN1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 18, OMIM:614808 Tags
Green List (high evidence)	PINK1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 6, early onset, OMIM:605909 Tags
Green List (high evidence)	PINK1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 6, early onset, OMIM:605909 Dystonia Tags
Green List (high evidence)	PLA2G6 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953 Neurodegeneration with brain iron accumulation 2B, OMIM:610217 Tags
Green List (high evidence)	PLA2G6 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Parkinson disease 14 (#612953) Autosomal recessive Parkinson disease 14, 612953 Infantile neuroaxonal dystrophy 1 (#256600) Neurodegeneration with brain iron accumulation 2B, 610217 Neurodegeneration with brain iron accumulation 2B (#610217) Infantile neuroaxonal dystrophy 1, 256600 Tags
Green List (high evidence)	PLA2G6 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953 Neurodegeneration with brain iron accumulation 2B, OMIM:610217 Tags
Green List (high evidence)	PLP1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 2, X-linked recessive, 312920 Tags
Green List (high evidence)	PMPCA Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal recessive spinocerebellar ataxia 2, 213200 Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. Tags
Green List (high evidence)	PMPCB Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 Tags
Green List (high evidence)	PNKD Hereditary ataxia with onset in adulthood v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 Tags
Green List (high evidence)	PNKD Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, OMIM:118800 Tags
Green List (high evidence)	PNKP Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Microcephaly, seizures and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Ataxia with oculomotor apraxia 4 (#616267) Tags
Green List (high evidence)	PNPLA6 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 39, autosomal recessive, 612020 Tags
Green List (high evidence)	PNPLA6 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Sapstic paraplegia 39, 612020 Oliver-McFarlane syndrome, 275400 Boucher-Neuhauser syndrome, 215470 Oliver-McFarlane syndrome (#603197) Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470) Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients Tags
Green List (high evidence)	POLG Adult onset neurodegenerative disorder v9.1	6 reviews 3 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Tags
Green List (high evidence)	POLG Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Mitochondrial recessive ataxia syndrome, 607459 autosomal recessive progressive external opthalmoplegia, 258450 autosomal dominant progressive external ophthalmoplegia, 157640 Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 Tags
Green List (high evidence)	POLR3A Adult onset hereditary spastic paraplegia v6.11	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Autosomal Recessive Ataxia Tags
Green List (high evidence)	POLR3A Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 Autosomal Recessive Ataxia Tags
Green List (high evidence)	PPP2R2B_CAG STR Adult onset dystonia, chorea or related movement disorder v6.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
Green List (high evidence)	PPP2R2B_CAG STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
Green List (high evidence)	PPP2R2B_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
Green List (high evidence)	PPP2R5D Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 35 OMIM:616355 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602 Tags
Green List (high evidence)	PRDX3 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 32, OMIM:619862 Tags
Green List (high evidence)	PRKCG Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 14 Spincocerebellar ataxia 14, 605361 Tags
Green List (high evidence)	PRKN Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease, juvenile, type 2, OMIM:600116 Tags
Green List (high evidence)	PRKN Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease, juvenile, type 2, OMIM:600116 Dystonia Tags
Green List (high evidence)	PRKRA Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 16, OMIM:612067 Tags
Green List (high evidence)	PRNP Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Creutzfeldt-Jakob disease, OMIM:123400 Huntington disease-like 1, OMIM:603218 Dementia Gerstmann-Straussler disease, OMIM:137440 Tags
Green List (high evidence)	PRNP Adult onset hereditary spastic paraplegia v6.11	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Gerstmann-Straussler disease, OMIM: 137440 Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656 Tags
Green List (high evidence)	PRNP Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440 Huntington disease-like 1, OMIM:603218 Gerstmann-Straussler disease, OMIM:137440 Creutzfeldt-Jakob disease, OMIM:123400 Tags
Green List (high evidence)	PRNP Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal Dominant Ataxia Multiple allelic disorders reported Huntington disease-like 1 Gerstmann-Straussler disease Creutzfeldt-Jakob disease Insomnia, fatal familial Tags
Green List (high evidence)	PRRT2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS SEIZURES, BENIGN FAMILIAL INFANTILE, 2 EPISODIC KINESIGENIC DYSKINESIA 1 Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 dystonia and occasionally hemiplegic migraine and epilepsy episodic kinesigenic dyskinesia episodic kinesigenic dyskinesia, 128200 Tags treatable
Green List (high evidence)	PRRT2 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Episodic kinesigenic dyskinesia 1, OMIM:128200 Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 Tags
Green List (high evidence)	PSAP Adult onset neurodegenerative disorder v9.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes {Parkinson disease 24, autosomal dominant, susceptibility to}, OMIM:619491 Tags
Green List (high evidence)	PSEN1 Adult onset hereditary spastic paraplegia v6.11	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH South West GLH Expert Review Green NHS GMS London North GLH Phenotypes Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques Alzheimer disease, type 3, with spastic paraparesis and apraxia Alzheimer disease, type 3, with spastic paraparesis and unusual plaques Tags
Green List (high evidence)	PSEN1 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822 Dystonia Dementia, frontotemporal, OMIM:600274 Pick disease, OMIM:172700 Alzheimer disease, type 3, OMIM:607822 Tags
Green List (high evidence)	PSEN2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Alzheimer disease-4, OMIM:606889 Alzheimer disease 4, MONDO:0011743 Tags
Green List (high evidence)	PTRH2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 Tags
Green List (high evidence)	PUM1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 47, 617931 Tags
Green List (high evidence)	RAB32 Adult onset neurodegenerative disorder v9.1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes {Parkinson disease 26, autosomal dominant, susceptibility to}, OMIM:620923 Tags
Green List (high evidence)	RAB39B Adult onset dystonia, chorea or related movement disorder v6.1	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 NHS GMS London North GLH Expert Review Green Phenotypes Waisman syndrome, OMIM:311510 Tags
Green List (high evidence)	RAB3A Hereditary ataxia with onset in adulthood v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Research Phenotypes Spinocerebellar ataxia 52, OMIM:621535 Tags
Green List (high evidence)	RARS2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes epilepsy Pontocerebellar hypoplasia Pontocerebellar hypoplasia 6, 611523 Tags
Green List (high evidence)	REEP1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 Tags
Green List (high evidence)	RNF170 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal dominant sensory ataxia 1, 608984 Ataxia, sensory, 1, autosomal dominant Tags
Green List (high evidence)	RNF216 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 Tags
Green List (high evidence)	RNF216 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Cerebellar ataxia and hypogonadotrophic hypogonadism Tags
Green List (high evidence)	RNF216 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 Tags
Green List (high evidence)	ROBO3 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Familial horizontal gaze palsy with progressive scoliosis, 607313 Tags
Green List (high evidence)	RTN2 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 Tags
Green List (high evidence)	SACS Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Charlevoix-Saguenay spastic ataxia, 270550 Spastic ataxia, Charlevoix-Saguenay type Tags
Green List (high evidence)	SACS Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 Tags
Green List (high evidence)	SAMD9L Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia-pancytopenia syndrome, 159550 Tags
Green List (high evidence)	SCN1A Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes familial hemiplegic migraine 3 Familial febrile seziures 3A, 604403 Dravet syndrome several epilepsy, convulsion and migraine disorders. Generalised epilepsy with febrile seizures type 2, 604403 Familial hemiplegic migraine 3, 609634 Epileptic encephalopathy 6, 607208 Tags
Green List (high evidence)	SCN8A Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306 Developmental and epileptic encephalopathy 13, OMIM:614558 Tags
Green List (high evidence)	SEPSECS Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia type 2D, 613811 Pontocerebellar hypoplasia type 2D (613811) Tags
Green List (high evidence)	SETX Hereditary ataxia with onset in adulthood v9.1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 Tags
Green List (high evidence)	SETX Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
Green List (high evidence)	SGCE Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia-11, myoclonic, OMIM:159900 Tags
Green List (high evidence)	SIL1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green List (high evidence)	SLC19A3 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), OMIM:607483 Tags
Green List (high evidence)	SLC1A3 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Episodic ataxia, type 6 Episodic ataxia type 6, 612656 Tags
Green List (high evidence)	SLC20A2 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Dystonia Basal ganglia calcification, idiopathic, 1, OMIM:158378 Tags
Green List (high evidence)	SLC20A2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 1, OMIM:213600 Tags
Green List (high evidence)	SLC25A15 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 Tags
Green List (high evidence)	SLC25A46 Hereditary ataxia with onset in adulthood v9.1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia, MONDO:0000437 Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Tags
Green List (high evidence)	SLC2A1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia GLUT1 DEFICIENCY SYNDROME 1 dystonia 9 GLUT1 deficiency syndrome 2, 612126 GLUT1 deficiency syndrome 1, 606777 Dystonia 9, 601042 EPILEPSY, IDIOPATHIC GENERALIZED Tags treatable
Green List (high evidence)	SLC2A1 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 9, OMIM:601042 GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777 GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126 Tags
Green List (high evidence)	SLC30A10 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 Tags
Green List (high evidence)	SLC39A8 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Congenital disorder of glycosylation type IIN, 616721 Tags
Green List (high evidence)	SLC52A2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Bwon-Vialetto-Van Laere syndrome 2, 614707 Tags
Green List (high evidence)	SLC9A6 Hereditary ataxia with onset in adulthood v9.1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Hereditary ataxia v1.148 Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green List (high evidence)	SNCA Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 4, OMIM:605543 Parkinson disease 1, OMIM:168601 Dementia, Lewy body, OMIM:127750 Tags gene-duplication
Green List (high evidence)	SNCA Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dementia, Lewy body, OMIM:127750 Parkinson disease 4, OMIM:605543 Parkinson disease 1, OMIM:168601 Tags
Green List (high evidence)	SNX14 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal recessive spinocerebellar ataxia (#616354) Autosomal recessive spinocerebellar ataxia 20, 616354 Tags
Green List (high evidence)	SOD1 Adult onset neurodegenerative disorder v9.1	7 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 1, OMIM:105400 Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598 Tags treatable
Green List (high evidence)	SPAST Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438 Tags
Green List (high evidence)	SPAST Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438 Tags
Green List (high evidence)	SPG11 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Spastic paraplegia 11, autosomal recessive, OMIM:604360 Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668 Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 Tags
Green List (high evidence)	SPG11 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR Amyotrophic lateral sclerosis 5, juvenile, 602099, AR Tags
Green List (high evidence)	SPG11 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes early onset parkinsonism, levo dopa responsve Spastic paraplegia 11, autosomal recessive, OMIM:604360 Complex parkinsonism hereditary spastic paraparesis Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 Tags
Green List (high evidence)	SPG21 Adult onset neurodegenerative disorder v9.1	6 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic Paraplegia, Recessive Tags
Green List (high evidence)	SPG21 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Mast syndrome, 248900 Spastic Paraplegia, autosomal recessive Tags
Green List (high evidence)	SPG7 Hereditary ataxia with onset in adulthood v9.1	6 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags digenic Q1_26_MOI Q1_26_NHS_review
Green List (high evidence)	SPG7 Adult onset hereditary spastic paraplegia v6.11	6 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags digenic Q1_26_MOI Q1_26_NHS_review
Green List (high evidence)	SPG7 Adult onset neurodegenerative disorder v9.1	8 reviews 5 green 3 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags digenic Q1_26_MOI Q1_26_NHS_review
Green List (high evidence)	SPTAN1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477 Developmental delay with or without epilepsy, OMIM:620540 Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 Tags
Green List (high evidence)	SPTAN1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477 Developmental delay with or without epilepsy, OMIM:620540 Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 Tags
Green List (high evidence)	SPTBN2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 Tags
Green List (high evidence)	SPTLC1 Adult onset neurodegenerative disorder v9.1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Amyotrophic lateral sclerosis 27, juvenile, OMIM:620285 amyotrophic lateral sclerosis 27, juvenile, MONDO:0859529 Tags
Green List (high evidence)	SPTLC2 Adult onset neurodegenerative disorder v9.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, OMIM:613640 amyotrophic lateral sclerosis 27, juvenile, MONDO:0859529 Tags
Green List (high evidence)	SQSTM1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 Tags
Green List (high evidence)	SQSTM1 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437 Tags
Green List (high evidence)	SRD5A3 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Congenital disorder of glycosylation type Iq, 612379 Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Green List (high evidence)	SS18L1 Adult onset neurodegenerative disorder v9.1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis, MONDO:0004976 Tags gene-checked
Green List (high evidence)	STUB1 Adult onset neurodegenerative disorder v9.1	8 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526 Tags
Green List (high evidence)	STUB1 Hereditary ataxia with onset in adulthood v9.1	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526 Tags
Green List (high evidence)	SYNE1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743 Autosomal recessive ataxia, Beauce type, MONDO:0012549 Tags
Green List (high evidence)	SYNGAP1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Intellectual developmental disorder, autosomal dominant 5, OMIM:612621 Tags
Green List (high evidence)	SYNJ1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 20, early-onset, OMIM:615530 Tags
Green List (high evidence)	SYNJ1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 20, early-onset, OMIM:615530 Tags
Green List (high evidence)	TARDBP Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, OMIM:612069 Tags polygenic
Green List (high evidence)	TBK1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 Tags
Green List (high evidence)	TBK1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 Tags
Green List (high evidence)	TBP_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Green List (high evidence)	TBP_CAG STR Adult onset neurodegenerative disorder v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green List (high evidence)	TBP_CAG STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Green List (high evidence)	TBP_CAG STR Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green List (high evidence)	TDP1 Hereditary ataxia with onset in adulthood v9.1	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 Tags founder-effect
Green List (high evidence)	THAP1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 6, torsion, OMIM:602629 Tags
Green List (high evidence)	TIMM8A Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS South West GLH Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700 Tags
Green List (high evidence)	TMEM240 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green List (high evidence)	TMEM240 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spinocerebellar ataxia 21, OMIM:607454 Tags
Green List (high evidence)	TOE1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 7, 614969 Tags
Green List (high evidence)	TOR1A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441 Tags
Green List (high evidence)	TPP1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270 Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Neuronal ceroid lipofuscinosis, 204500 Tags
Green List (high evidence)	TREM2 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193 Dystonia Tags
Green List (high evidence)	TREX1 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750 Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315 Tags
Green List (high evidence)	TSEN2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia 2B, 612389 Tags
Green List (high evidence)	TSEN54 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753 Tags
Green List (high evidence)	TTBK2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 11, 604432 Spinocerebellar ataxia 11 Tags
Green List (high evidence)	TTC19 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157 Tags
Green List (high evidence)	TTPA Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Ataxia with isolated vitamin E deficiency, 277460 Tags
Green List (high evidence)	TTR Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Amyloidosis, hereditary, transthyretin-related, OMIM:105210 Carpal tunnel syndrome, familial, OMIM:115430 Tags
Green List (high evidence)	TUBA1A Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Lissencephaly 3, 611603 Tags
Green List (high evidence)	TUBA4A Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208 amyotrophic lateral sclerosis type 22, MONDO:0014531 Tags
Green List (high evidence)	TUBA4A Adult onset neurodegenerative disorder v9.1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208 amyotrophic lateral sclerosis type 22, MONDO:0014531 Tags
Green List (high evidence)	TUBB2B Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 Tags
Green List (high evidence)	TUBB3 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain abnormalities 1, 614039 Tags
Green List (high evidence)	TUBB4A Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Dystonia 4, torsion, autosomal dominant, 128101 ataxia Leukodystrophy, hypomyelinating, 612438 AD Tags
Green List (high evidence)	TUBB4A Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Dystonia 4, torsion, autosomal dominant, 128101 Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 Leukodystrophy, hypomyelinating, 6, 612438 Tags
Green List (high evidence)	TUBB4A Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 4, torsion, autosomal dominant, OMIM:128101 Tags
Green List (high evidence)	TWNK Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Mitochondrial DNA depletion syndrome 7, 271245 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Ataxia Neuropathy Spectrum Disorders, Dominant Spinocerebellar Ataxia, Recessive Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 Perrault syndrome 5, 616138 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Tags
Green List (high evidence)	TYROBP Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770 Tags
Green List (high evidence)	UBA5 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Early infantile epileptic encephalopathy 44, 617132 Autosomal recessive spinocerebellar ataxia 24, 617133 Tags
Green List (high evidence)	UBAP1 Adult onset hereditary spastic paraplegia v6.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Yorkshire and North East GLH Expert Review Green Literature Phenotypes Hereditary spastic paraplegia Tags
Green List (high evidence)	UBQLN2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, OMIM:300857 Tags
Green List (high evidence)	UCHL1 Adult onset hereditary spastic paraplegia v6.11	7 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags
Green List (high evidence)	UCHL1 Hereditary ataxia with onset in adulthood v9.1	6 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags
Green List (high evidence)	VAPB Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 8, OMIM:608627 Tags
Green List (high evidence)	VCP Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954 Tags
Green List (high evidence)	VLDLR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 Tags
Green List (high evidence)	VPS13A Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Choreoacanthocytosis, OMIM:200150 Tags
Green List (high evidence)	VPS13A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Choreoacanthocytosis, OMIM:200150 Tags
Green List (high evidence)	VPS13D Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 Tags
Green List (high evidence)	VPS16 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Dystonia 30, OMIM:619291 Dystonia Associated with Lysosomal Abnormalities Tags
Green List (high evidence)	VPS35 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes {Parkinson disease 17}, OMIM:614203 Tags missense
Green List (high evidence)	VPS35 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 17, OMIM:614203 Tags
Green List (high evidence)	VPS53 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia 2E, 615851 Tags
Green List (high evidence)	VRK1 Adult onset neurodegenerative disorder v9.1	7 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596 spinal muscular atrophy, MONDO:0001516 distal hereditary motor neuropathy, MONDO:0018894 familial amyotrophic lateral sclerosis, MONDO:0005144 Tags
Green List (high evidence)	WASHC5 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 8, autosomal dominant, OMIM:603563 Tags
Green List (high evidence)	WDR45 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dystonia Neurodegeneration with brain iron accumulation 5, OMIM:300894 Tags
Green List (high evidence)	WDR45 Adult onset dystonia, chorea or related movement disorder v6.1	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 NHS GMS London North GLH Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5, OMIM:300894 Tags
Green List (high evidence)	WDR73 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Galloway-Mowat Syndrome 1, 251300 Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature Tags
Green List (high evidence)	WDR81 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185 Congenital hydrocephalus 3 with brain anomalies, 617967 Tags
Green List (high evidence)	WFS1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Wolfram syndrome 1, 222300 Tags
Green List (high evidence)	WWOX Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232 Autosomal recessive spinocerebellar ataxia 12, 614322 Early infantile epileptic encephalopathy 28, 616211 Tags
Green List (high evidence)	XK Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 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 NHS GMS Literature Phenotypes McLeod syndrome, OMIM:300842 Tags
Green List (high evidence)	XK Adult onset neurodegenerative disorder v9.1	3 reviews 3 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 NHS GMS Literature Phenotypes McLeod syndrome with or without chronic granulomatous disease, OMIM:300842 McLeod neuroacanthocytosis syndrome, MONDO:0018945 Tags
Green List (high evidence)	XPR1 Adult onset neurodegenerative disorder v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Basal ganglia calcification, idiopathic, 6, OMIM:605237 Tags
Green List (high evidence)	XPR1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 6, OMIM:616413 Tags
Green List (high evidence)	ZFYVE26 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Spastic paraplegia 15, autosomal recessive, OMIM:270700 Tags
Green List (high evidence)	ZFYVE26 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 15, autosomal recessive, OMIM:270700 Tags
Amber List (moderate evidence)	AARS Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Amber List (moderate evidence)	ABCB7 Hereditary ataxia with onset in adulthood v9.1	6 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Anemia, sideroblastic, with ataxia OMIM:301310 X-linked sideroblastic anemia with ataxia MONDO:0010524 Tags
Amber List (moderate evidence)	ADGRG1 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Polymicrogyria, Frontoparietal OMIM:606854 bilateral frontoparietal polymicrogyria MONDO:0011738 Polymicrogyria, perisylvian type OMIM:615752 polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0014333 Tags
Amber List (moderate evidence)	ADPRHL2 Hereditary ataxia with onset in adulthood v9.1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 Tags new-gene-name
Amber List (moderate evidence)	AFG3L2 Adult onset hereditary spastic paraplegia v6.11	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Amber List (moderate evidence)	AIMP1 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 Tags
Amber List (moderate evidence)	ALS2 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Tags
Amber List (moderate evidence)	AMPD2 Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes ?Spastic paraplegia 63, 615686, AR Hereditary Spastic Paraplegia? Pontocerebellar hypoplasia, type 9, 615809, AR Pontocerebellar hypolplasia (biallelic) Tags
Amber List (moderate evidence)	AMPD2 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Pontocerebellar hyoplasia 9 OMIM:615809 pontocerebellar hypoplasia type 9 MONDO:0014351 Tags
Amber List (moderate evidence)	AP1S2 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 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 NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Amber List (moderate evidence)	AP4B1 Adult onset hereditary spastic paraplegia v6.11	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Amber List (moderate evidence)	AP4E1 Adult onset hereditary spastic paraplegia v6.11	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744 Hereditary spastic paraplegia 51, MONDO:0013401 Tags
Amber List (moderate evidence)	AP4M1 Adult onset hereditary spastic paraplegia v6.11	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 Tags
Amber List (moderate evidence)	AP4S1 Adult onset hereditary spastic paraplegia v6.11	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes developmental delay seizures Spastic paraplegia 52, autosomal recessive, 614067 Tags
Amber List (moderate evidence)	AP5Z1 Adult onset neurodegenerative disorder v9.1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH Phenotypes Spastic paraplegia 48, autosomal recessive, OMIM:613647 Tags
Amber List (moderate evidence)	ARG1 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Progressive spastic tetraplegia Argininaemia, 207800 Tags
Amber List (moderate evidence)	ARHGEF28 Adult onset neurodegenerative disorder v9.1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Phenotypes Amyotrophic lateral sclerosis, MONDO:0004976 Tags
Amber List (moderate evidence)	ARL6IP1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber NHS GMS Yorkshire and North East GLH South West GLH Phenotypes Spastic paraplegia 61, autosomal recessive, 615685 Tags
Amber List (moderate evidence)	ARX Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Developmental and epileptic encephalopathy 1, OMIM:308350 X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856 Partington syndrome, OMIM:309510 Partington syndrome, MONDO:0010654 Tags
Amber List (moderate evidence)	ATP2B3 Hereditary ataxia with onset in adulthood v9.1	5 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 Tags
Amber List (moderate evidence)	ATP2B3 Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	Unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH Phenotypes ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 Tags
Amber List (moderate evidence)	ATP6AP2 Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH Phenotypes ?Parkinsonism with spasticity, X-linked, OMIM:300911 Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423 Tags watchlist
Amber List (moderate evidence)	ATP8A2 Hereditary ataxia with onset in adulthood v9.1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104 Tags
Amber List (moderate evidence)	ATXN1_CAG STR Adult onset neurodegenerative disorder v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS South West GLH London North GLH Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR watchlist
Amber List (moderate evidence)	ATXN3_CAG STR Adult onset neurodegenerative disorder v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH London North GLH Expert list Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR watchlist
Amber List (moderate evidence)	AUH Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes 3-methylglutaconic aciduria, type I, OMIM:250950 Dystonia Tags
Amber List (moderate evidence)	C12orf65 Adult onset hereditary spastic paraplegia v6.11	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Amber List (moderate evidence)	CCDC88C Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH Phenotypes ?Spinocerebellar ataxia 40, OMIM:616053 Tags
Amber List (moderate evidence)	CHCHD2 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS South West GLH Expert Review Amber Phenotypes Parkinson disease 22, autosomal dominant, OMIM:616710 Tags
Amber List (moderate evidence)	CHMP1A Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia, type 8 OMIM:614961 pontocerebellar hypoplasia type 8 MONDO:0013990 Tags
Amber List (moderate evidence)	CHP1 Hereditary ataxia with onset in adulthood v9.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist
Amber List (moderate evidence)	CHP1 Adult onset hereditary spastic paraplegia v6.11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist
Amber List (moderate evidence)	CIZ1 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 red	Not set	Sources London North GLH NHS GMS South West GLH Expert Review Amber Phenotypes Dystonia 23, 614860 Tags
Amber List (moderate evidence)	CIZ1 Adult onset neurodegenerative disorder v9.1	5 reviews 3 red	Unknown	Sources Expert Review Amber Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Dystonia 23, MONDO:0013928 Tags
Amber List (moderate evidence)	CLP1 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia type 10 OMIM:615803 Tags founder-effect
Amber List (moderate evidence)	COQ2 Adult onset neurodegenerative disorder v9.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Phenotypes {Multiple system atrophy, susceptibility to}, OMIM:146500 Tags
Amber List (moderate evidence)	CST3 Adult onset neurodegenerative disorder v9.1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes Cerebral amyloid angiopathy, OMIM:105150 leukodystrophy, MONDO:0019046 Tags
Amber List (moderate evidence)	CSTB_CCCCGCCCCGCG STR Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Yorkshire and North East GLH Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR watchlist
Amber List (moderate evidence)	CYP2U1 Adult onset hereditary spastic paraplegia v6.11	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 56, autosomal recessive OMIM:615030 hereditary spastic paraplegia 56 MONDO:0014015 Tags
Amber List (moderate evidence)	DDC Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Amber List (moderate evidence)	DNAJC13 Adult onset neurodegenerative disorder v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Tags
Amber List (moderate evidence)	DSTYK Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 23, 270750, AR Spastic paraplegia 23, 270750 Congenital anomalies of kidney and urinary tract 1, 610805, AD Tags
Amber List (moderate evidence)	DYNC1H1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Autosomal dominant MR 13, 614563 Charcot Marie Tooth, SMA, Intellectual disability Tags
Amber List (moderate evidence)	EBF3 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Hypotonia, ataxia, and delayed development syndrome OMIM:617330 hypotonia, ataxia, and delayed development syndrome MONDO:0015021 Tags
Amber List (moderate evidence)	EEF2 Hereditary ataxia with onset in adulthood v9.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia 26 OMIM:609306 Tags
Amber List (moderate evidence)	EIF4G1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes {Parkinsons disease 18}, OMIM:614251 Tags
Amber List (moderate evidence)	EIF4G1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Parkinsons disease 18, 614251 Tags
Amber List (moderate evidence)	ELOVL5 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 38, 615957 Spinocerebellar ataxia 36 615957 Tags
Amber List (moderate evidence)	ENTPD1 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH South West GLH Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683 Tags
Amber List (moderate evidence)	ERLIN1 Adult onset hereditary spastic paraplegia v6.11	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Hereditary spastic paraplegia Spastic paraplegia 62, 615681 Tags
Amber List (moderate evidence)	EWSR1 Adult onset neurodegenerative disorder v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Phenotypes Amyotrophic lateral sclerosis, MONDO:0004976 Tags
Amber List (moderate evidence)	FARS2 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 Tags
Amber List (moderate evidence)	FGF14_TTC STR Hereditary ataxia with onset in adulthood v9.1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Spinocerebellar ataxia 27B, late-onset, OMIM: 620174 Tags NGS Not Validated watchlist
Amber List (moderate evidence)	FOXG1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Rett Syndrome, congenital variant, 613454 Dystonia Tags
Amber List (moderate evidence)	FXN_GAA STR Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Yorkshire and North East GLH Expert list Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR watchlist
Amber List (moderate evidence)	GAD1 Adult onset hereditary spastic paraplegia v6.11	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber South West GLH Phenotypes Cerebralpalsy, spasticquadriplegic,1, 603513 Tags
Amber List (moderate evidence)	GALC Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Krabbe disease, OMIM:245200 Tags
Amber List (moderate evidence)	GCDH Adult onset neurodegenerative disorder v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Glutaricaciduria, type I, OMIM:231670 Tags
Amber List (moderate evidence)	GIGYF2 Adult onset neurodegenerative disorder v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes {Parkinson disease 11}, OMIM:607688 Tags
Amber List (moderate evidence)	GJC2 Adult onset hereditary spastic paraplegia v6.11	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes ?Spastic paraplegia 44, autosomal recessive , OMIM:613206 Leukodystrophy, hypomyelinating, 2, OMIM:608804 Tags Q1_26_promote_green
Amber List (moderate evidence)	GLB1 Adult onset dystonia, chorea or related movement disorder v6.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes GM1-gangliosidosis, type III, 230650 Tags
Amber List (moderate evidence)	GLT8D1 Adult onset neurodegenerative disorder v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes familial amyotrophic lateral sclerosis, MONDO:0005144 Tags
Amber List (moderate evidence)	HACE1 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes seizure Spastic paraplegia and psychomotor retardation with or without seizures, 616756 psychomotor retardation Spastic paraplegia Tags
Amber List (moderate evidence)	HNRNPA2B1 Adult onset neurodegenerative disorder v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Phenotypes Amyotrophic lateral sclerosis, MONDO:0004976 ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 Tags
Amber List (moderate evidence)	HSPD1 Adult onset hereditary spastic paraplegia v6.11	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 13, autosomal dominant, OMIM:605280 Tags
Amber List (moderate evidence)	IBA57 Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Amber List (moderate evidence)	JAM2 Hereditary ataxia with onset in adulthood v9.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 Tags Q1_26_promote_green
Amber List (moderate evidence)	JAM2 Adult onset neurodegenerative disorder v9.1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 Fahr syndrome Tags Q1_26_promote_green
Amber List (moderate evidence)	KCNQ3 Hereditary ataxia with onset in adulthood v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Seizures, benign neonatal, type 2, 121201 Benign neonatal seizures 2, 121201 Tags
Amber List (moderate evidence)	KDM5C Adult onset hereditary spastic paraplegia v6.11	7 reviews 2 green 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 Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534 Tags
Amber List (moderate evidence)	KIDINS220 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 Tags
Amber List (moderate evidence)	L1CAM Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000 Tags
Amber List (moderate evidence)	LNPK Hereditary ataxia with onset in adulthood v9.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum Tags
Amber List (moderate evidence)	LYST Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes spastic paraplegia Chediak-Higashi syndrome, 214500 Spastic paraplegia Tags
Amber List (moderate evidence)	MARS2 Adult onset hereditary spastic paraplegia v6.11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic ataxia 3, autosomal recessive, 611390 Spastic ataxia 3, autosomal recessive Tags
Amber List (moderate evidence)	MARS2 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic ataxia 3, autosomal recessive, OMIM:611390 Tags cnv gene-duplication
Amber List (moderate evidence)	MATR3 Adult onset neurodegenerative disorder v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Phenotypes Amyotrophic lateral sclerosis 21, OMIM:606070 Tags
Amber List (moderate evidence)	MORC2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Tags
Amber List (moderate evidence)	MTPAP Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Ataxia, spastic, 4 ?Spastic ataxia 4, autosomal recessive, 613672 Spastic ataxia 4, autosomal recessive Tags
Amber List (moderate evidence)	MTPAP Hereditary ataxia with onset in adulthood v9.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Ataxia, spastic, 4, Autosomal recessive spastic ataxia 4, 613672 Tags
Amber List (moderate evidence)	NKX6-2 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 Tags
Amber List (moderate evidence)	NR4A2 Adult onset neurodegenerative disorder v9.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 Tags
Amber List (moderate evidence)	NT5C2 Adult onset hereditary spastic paraplegia v6.11	7 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 45, autosomal recessive, 613162 Tags
Amber List (moderate evidence)	PDE2A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London North GLH Phenotypes Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150 Tags
Amber List (moderate evidence)	PEX2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Peroxisome biogenesis disorder 5B, 614867 Tags
Amber List (moderate evidence)	PLP1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Pelizaeus-Merzbacher disease, 312080 Spastic paraplegia 2, X-linked, 312920 Dystonia Tags
Amber List (moderate evidence)	PNPT1 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 25, OMIM:608703 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	PPP2R2B_CAG STR Adult onset neurodegenerative disorder v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR watchlist
Amber List (moderate evidence)	PRKRA Adult onset neurodegenerative disorder v9.1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia 16, OMIM:612067 Tags
Amber List (moderate evidence)	PRPH Adult onset neurodegenerative disorder v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710 Tags
Amber List (moderate evidence)	PRPS1 Hereditary ataxia with onset in adulthood v9.1	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes cerebellar ataxia, MONDO:0000437 Tags
Amber List (moderate evidence)	PTS Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 Dystonia Tags
Amber List (moderate evidence)	QDPR Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Dystonia Tags
Amber List (moderate evidence)	RAB3GAP2 Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH South West GLH Phenotypes Martsolf syndrome 1, OMIM:212720 Warburg micro syndrome 2, OMIM:614225 Tags
Amber List (moderate evidence)	REEP2 Adult onset hereditary spastic paraplegia v6.11	7 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625 ?Spastic paraplegia 72, autosomal dominant,615625 ?Spastic paraplegia 72, autosomal recessive, 615625 Tags
Amber List (moderate evidence)	RORA Hereditary ataxia with onset in adulthood v9.1	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060 intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745 Tags
Amber List (moderate evidence)	SAR1B Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Chylomicron retention disease, 246700 Chylomicron retention disease 246700 Tags treatable
Amber List (moderate evidence)	SCYL1 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 Tags
Amber List (moderate evidence)	SERAC1 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Amber List (moderate evidence)	SIGMAR1 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes ?Amyotrophic lateral sclerosis 16, juvenile, OMIM:614373 Tags
Amber List (moderate evidence)	SLC16A2 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 Tags
Amber List (moderate evidence)	SLC1A4 Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657 Tags
Amber List (moderate evidence)	SLC30A10 Adult onset neurodegenerative disorder v9.1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 Tags treatable
Amber List (moderate evidence)	SLC9A1 Hereditary ataxia with onset in adulthood v9.1	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Lichtenstein-Knorr syndrome OMIM:616291 Lichtenstein-Knorr syndrome MONDO:0014572 Tags
Amber List (moderate evidence)	SNCB Adult onset neurodegenerative disorder v9.1	3 reviews	Unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Dementia, Lewy body, OMIM:127750 Tags
Amber List (moderate evidence)	SORL1 Adult onset neurodegenerative disorder v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Alzheimer's Disease Tags
Amber List (moderate evidence)	SPART Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Troyer syndrome, OMIM:275900 Spastic paraplegia 20 Tags
Amber List (moderate evidence)	TAF1 Adult onset dystonia, chorea or related movement disorder v6.1	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 London North GLH NHS GMS South West GLH Expert Review Amber Phenotypes Dystonia-Parkinsonism, X-linked, OMIM:314250 Tags
Amber List (moderate evidence)	TAF1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia-Parkinsonism, X-linked, OMIM:314250 Tags
Amber List (moderate evidence)	TBC1D23 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 11 OMIM:617695 pontocerebellar hypoplasia, type 11 MONDO:0054669 Tags
Amber List (moderate evidence)	TECPR2 Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Spastic paraplegia 49, autosomal recessive,615031, AR Tags
Amber List (moderate evidence)	TFG Adult onset hereditary spastic paraplegia v6.11	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 Tags
Amber List (moderate evidence)	TMEM106B Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Leukodystrophy, hypomyelinating, 16, OMIM:617964 Leukodystrophy, hypomyelinating, 16, MONDO:0054791 Tags missense
Amber List (moderate evidence)	TRMT5 Adult onset hereditary spastic paraplegia v6.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 Tags
Amber List (moderate evidence)	TUBB4A Adult onset neurodegenerative disorder v9.1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 6, OMIM:612438 Dystonia 4, torsion, autosomal dominant, OMIM:128101 Tags
Amber List (moderate evidence)	UCHL1 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes {?Parkinson disease 5, susceptibility to}, OMIM:613643 Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340 Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags
Amber List (moderate evidence)	UQCRC1 Adult onset neurodegenerative disorder v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Parkinsonism with polyneuropathy, OMIM:619279 Tags watchlist
Amber List (moderate evidence)	VAMP1 Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags
Amber List (moderate evidence)	VAMP1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Expert Review Amber Phenotypes Autosomal dominant spastic ataxia 1, 108600 Spastic ataxia 1, autosomal dominant, 108600 Tags watchlist
Amber List (moderate evidence)	VAMP2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS London North GLH Phenotypes Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760 Tags
Amber List (moderate evidence)	VPS13C Adult onset neurodegenerative disorder v9.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Phenotypes Parkinson disease 23, autosomal recessive, early onset, OMIM:616840 Tags
Amber List (moderate evidence)	VPS37A Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 53, autosomal recessive Spastic paraplegia 53, autosomal recessive, 614898, AR Tags
Amber List (moderate evidence)	VPS41 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Generalised Neurodevelopmental disorder Ataxia Dystonia Tags
Amber List (moderate evidence)	VPS41 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Generalised Neurodevelopmental disorder Ataxia Dystonia Tags
Amber List (moderate evidence)	VRK1 Hereditary ataxia with onset in adulthood v9.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia 1A, 607596 Tags
Amber List (moderate evidence)	WDR45B Adult onset hereditary spastic paraplegia v6.11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 Tags
Amber List (moderate evidence)	WDR48 Adult onset hereditary spastic paraplegia v6.11	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber South West GLH Phenotypes Spastic paraplegia Tags
Amber List (moderate evidence)	XRCC1 Hereditary ataxia with onset in adulthood v9.1	5 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 Tags founder-effect
Amber List (moderate evidence)	YY1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS London North GLH Phenotypes Gabriele-de Vries syndrome, OMIM:617557 Tags
Red List (low evidence)	AAAS Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 Triple-A syndrome, MONDO:0009279 Tags
Red List (low evidence)	AARS Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Red List (low evidence)	ABCB7 Adult onset neurodegenerative disorder v9.1	4 reviews 4 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 Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Anemia, sideroblastic, with ataxia, Sideroblastic Anemia and Ataxia Tags
Red List (low evidence)	ABHD12 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Tags
Red List (low evidence)	ACTB Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	Unknown	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 Tags
Red List (low evidence)	ADAR Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Tags
Red List (low evidence)	ADAR Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes dystonia Aicardi-Goutieres syndrome 6, 615010 Tags
Red List (low evidence)	ADCY5 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes dystonia Familial dyskinesia 606703 Dyskinesia, familial, with facial myokymia, 606703 Tags
Red List (low evidence)	ADCY5 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes dystonia Familial dyskinesia 606703 Dyskinesia, familial, with facial myokymia, 606703 Tags
Red List (low evidence)	AIFM1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS South West GLH Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 6 300816 Tags
Red List (low evidence)	AIMP1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 3, 260600 Tags
Red List (low evidence)	ALAS2 Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Tags
Red List (low evidence)	ALAS2 Hereditary ataxia with onset in adulthood v9.1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Hereditary ataxia v1.148 Tags
Red List (low evidence)	ALDH18A1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH 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
Red List (low evidence)	AMPD2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014). Hereditary Spastic Paraplegia? Pontocerebellar hypoplasia 9 (#615809) Pontocerebellar hypolplasia (biallelic) Tags
Red List (low evidence)	ANO10 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Red List (low evidence)	ANO3 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia 24, 615034 familial form of cranio-cervical dystonia Tags
Red List (low evidence)	AP1S2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 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 Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Red List (low evidence)	AP1S2 Adult onset dystonia, chorea or related movement disorder v6.1	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 Red NHS GMS London North GLH Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Red List (low evidence)	AP4B1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Red List (low evidence)	AP4E1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744 Hereditary spastic paraplegia 51, MONDO:0013401 Tags
Red List (low evidence)	AP4M1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 50, autosomal recessive Tags
Red List (low evidence)	AP4S1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes developmental delay seizures Spastic paraplegia 52, autosomal recessive Tags
Red List (low evidence)	APTX Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia with Oculomotor Apraxia Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Dystonia Tags
Red List (low evidence)	AR Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 2 red	Other	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Yorkshire and North East GLH Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ARG1 Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Argininemia, OMIM:207800 Tags
Red List (low evidence)	ARL6IP1 Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Tags
Red List (low evidence)	ARSI Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Tags
Red List (low evidence)	ARSI Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Tags
Red List (low evidence)	ARX Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	Unknown	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Phenotypes Dystonia Tags
Red List (low evidence)	ATCAY Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia, cerebellar, Cayman type Cerebellar Ataxia, Cayman type Tags
Red List (low evidence)	ATL1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 3A, autosomal dominant, Spastic Paraplegia, Dominant Spastic paraplegia 3A, autosomal dominant Tags
Red List (low evidence)	ATM Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia-telangiectasia, OMIM:208900 Tags
Red List (low evidence)	ATN1 Adult onset dystonia, chorea or related movement disorder v6.1	4 reviews 1 green 2 red	Other	Sources London North GLH NHS GMS South West GLH Expert Review Red Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATN1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	Other	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATN1 Adult onset neurodegenerative disorder v9.1	4 reviews 2 red	Other	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATP1A2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia alternating hemiplegia of childhood 104290 familial basilar migraine 602481 migraine familial hemiplegic migraine type 2, 602481 Tags treatable
Red List (low evidence)	ATP6AP2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS South West GLH Expert Review Red Phenotypes ?Parkinsonism with spasticity, X-linked 300911 Mental retardation, X-linked, syndromic, Hedera type 300423 Tags
Red List (low evidence)	ATP8A2 Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Tags
Red List (low evidence)	ATXN1 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	Other	Sources NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	Other	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN1 Adult onset neurodegenerative disorder v9.1	4 reviews 2 red	Other	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN10 Adult onset neurodegenerative disorder v9.1	4 reviews 2 red	Other	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN10 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	Other	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN2 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	Other	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 2, OMIM:183090 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN2 Adult onset neurodegenerative disorder v9.1	4 reviews 2 red	Other	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN3 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	Other	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Machado-Joseph disease, OMIM:109150 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN3 Adult onset neurodegenerative disorder v9.1	4 reviews 2 red	Other	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Machado-Joseph disease, OMIM:109150 Susceptibility to Late-Onset Parkinson Disease Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN3 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Machado-Joseph disease, OMIM:109150 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN7 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	Other	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN7 Adult onset neurodegenerative disorder v9.1	5 reviews 1 green 2 red	Other	Sources Yorkshire and North East GLH Expert Review Red London North GLH NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN8 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 8 608768 Tags currently-ngs-unreportable ensembl_ids_known_missing nucleotide-repeat-expansion
Red List (low evidence)	ATXN8 Adult onset neurodegenerative disorder v9.1	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Spinocerebellar ataxia 8 608768 Tags currently-ngs-unreportable ensembl_ids_known_missing nucleotide-repeat-expansion
Red List (low evidence)	ATXN8OS_CTG STR Hereditary ataxia with onset in adulthood v9.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Spinocerebellar ataxia 8, OMIM:608768 spinocerebellar ataxia type 8, MONDO:0012116 Tags NGS Not Validated STR
Red List (low evidence)	B4GALNT1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 26, autosomal recessive Tags
Red List (low evidence)	B4GAT1 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Muscular dystrophy-dystroglycanopathy type A13, 615287 Tags
Red List (low evidence)	BCAP31 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS London North GLH Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS Tags
Red List (low evidence)	BCAP31 Adult onset neurodegenerative disorder v9.1	3 reviews 1 green 2 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 Yorkshire and North East GLH NHS GMS South West GLH Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 Tags
Red List (low evidence)	BCS1L Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Bjornstad syndrome, 262000 Leigh syndrome, 256000 Mitochondrial complex III deficiency, nuclear type 1, 124000 Tags
Red List (low evidence)	BDNF Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH Expert Review Red Phenotypes Central hypoventilation syndrome, congenital 209880 Tags
Red List (low evidence)	BEAN1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 31, 117210 Spinocerebellar ataxia 31 117210 Tags currently-ngs-unreportable nucleotide-repeat-expansion structural-variant
Red List (low evidence)	BEAN1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 31 117210 Tags currently-ngs-unreportable nucleotide-repeat-expansion structural-variant
Red List (low evidence)	BEAN1_TGGAA STR Hereditary ataxia with onset in adulthood v9.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Spinocerebellar ataxia 31, OMIM:117210 spinocerebellar ataxia type 31, MONDO:0007296 Tags NGS Not Validated STR
Red List (low evidence)	BSCL2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Silver spastic paraplegia syndrome, OMIM:270685 Tags
Red List (low evidence)	C12orf65 Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Red List (low evidence)	C9orf72 Adult onset neurodegenerative disorder v9.1	4 reviews 2 red	Other	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	C9orf72 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	CA8 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Tags
Red List (low evidence)	CACNA1A Adult onset neurodegenerative disorder v9.1	5 reviews 1 green 3 red	Other	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	CACNB4 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Episodic ataxia, type 5 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 EPISODIC ATAXIA, TYPE 5 Episodic Ataxia Tags treatable
Red List (low evidence)	CACNB4 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 EPISODIC ATAXIA, TYPE 5 Tags
Red List (low evidence)	CACNB4 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Episodic ataxia type 5, 613855 Episodic ataxia, type 5 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 Episodic Ataxia Tags treatable
Red List (low evidence)	CAMTA1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Cerebellarataxia, nonprogressive, with mental retardation, 614756 Tags
Red List (low evidence)	CAPN1 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 76 autosomal recessive 616907 Tags
Red List (low evidence)	CASK Adult onset neurodegenerative disorder v9.1	4 reviews 4 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 Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Tags
Red List (low evidence)	CCDC88C Hereditary ataxia with onset in adulthood v9.1	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 40, 616053 autosomal dominant spinocerebellar ataxia Tags
Red List (low evidence)	CCT5 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Phenotypes Sensory Neuropathy with Spastic Paraplegia Neuropathy, hereditary sensory, with spastic paraplegia Tags
Red List (low evidence)	CCT5 Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia Sensory Neuropathy with Spastic Paraplegia Tags
Red List (low evidence)	CDK16 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Yorkshire and North East GLH Expert Review Red NHS GMS London North GLH Phenotypes Intellectual disability and spastic paraplegia, x-linked Tags
Red List (low evidence)	CDK16 Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH Yorkshire and North East GLH Expert Review Red London North GLH NHS GMS South West GLH Phenotypes Intellectual disability and spastic paraplegia Tags
Red List (low evidence)	CDK5 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 red	Not set	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 Tags
Red List (low evidence)	CHMP1A Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Red List (low evidence)	CLP1 Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Phenotypes Pontocerebellar hypoplasia 10, 615803 Tags
Red List (low evidence)	COASY Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes COASY protein-associated neurodegeneration Neurodegeneration with brain iron accumulation 6 Neurodegeneration with brain iron accumulation 6 615643 Tags
Red List (low evidence)	COG5 Adult onset neurodegenerative disorder v9.1	6 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Congenital disorder of glycosylation, type IIi 613612 Tags
Red List (low evidence)	COQ8A Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Coenzyme Q10 deficiency, primary 4, 612016 Spinocerebellar Ataxia Type Tags
Red List (low evidence)	COX10 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Red List (low evidence)	COX15 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Red List (low evidence)	COX20 Adult onset neurodegenerative disorder v9.1	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Red List (low evidence)	CSTB Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Red List (low evidence)	CSTB Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Red List (low evidence)	CWF19L1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Tags
Red List (low evidence)	CYP2U1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. Spastic paraplegia 56, autosomal recessive Tags
Red List (low evidence)	DAB1 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 37, OMIM: 615945 Tags currently-ngs-unreportable founder-effect nucleotide-repeat-expansion
Red List (low evidence)	DAB1 Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 37 615945 Tags currently-ngs-unreportable founder-effect nucleotide-repeat-expansion
Red List (low evidence)	DAB1_ATTTC STR Hereditary ataxia with onset in adulthood v9.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Spinocerebellar ataxia 37, OMIM: 615945 Tags NGS Not Validated STR
Red List (low evidence)	DAO Adult onset neurodegenerative disorder v9.1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis, MONDO:0004976 Tags refuted
Red List (low evidence)	DARS Adult onset neurodegenerative disorder v9.1	6 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Expert list Phenotypes Brain stem and spinal cord Hypomyelination leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new-gene-name
Red List (low evidence)	DCAF10 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Tags
Red List (low evidence)	DCAF17 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia Woodhouse-Sakati syndrome Tags
Red List (low evidence)	DCC Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Mirror movements 1 and/or agenesis of the corpus callosum Tags
Red List (low evidence)	DDC Adult onset neurodegenerative disorder v9.1	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Red List (low evidence)	DDHD1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 28, autosomal recessive Tags
Red List (low evidence)	DDHD2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH 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
Red List (low evidence)	DLAT Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes episodic dystonia pyruvate dehydrogenase deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency 245348 Tags
Red List (low evidence)	DLAT Adult onset neurodegenerative disorder v9.1	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Phenotypes Dystonia Tags
Red List (low evidence)	DMXL2 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Sensorineural Hearing Loss OMIM:612186 Polyendocrine-polyneuropathy syndrome, 616113 ORPHA90636 Tags
Red List (low evidence)	DMXL2 Adult onset neurodegenerative disorder v9.1	5 reviews 5 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Sensorineural Hearing Loss ORPHA90636 OMIM:612186 Tags
Red List (low evidence)	DNAJC19 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes 3-methylglutaconic aciduria, type V 610198 dilated cardiomyopathy with ataxia (DCMA) syndrome Tags
Red List (low evidence)	DRD2 Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	Unknown	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Dystonia, myoclonic, 159900 Tags
Red List (low evidence)	DRD2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Dystonia, myoclonic, 159900 Tags
Red List (low evidence)	DRD5 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes {Blepharospasm, primary benign}, 606798 Tags
Red List (low evidence)	DRD5 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes {Blepharospasm, primary benign}, 606798 Tags
Red List (low evidence)	DSTYK Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spastic paraplegia 23, 270750 Tags founder-effect
Red List (low evidence)	DYNC1H1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Charcot Marie Tooth, SMA, Intellectual disability Tags
Red List (low evidence)	EARS2 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	EARS2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Dystonia Tags
Red List (low evidence)	ELOVL5 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 36 (#615957) Tags
Red List (low evidence)	ENTPD1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683 Tags
Red List (low evidence)	ERCC6 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	ERCC6 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	ERLIN1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Yorkshire and North East GLH Expert list Phenotypes Hereditary spastic paraplegia Spastic paraplegia 62, 615681 Tags
Red List (low evidence)	ERLIN2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes neurodegeneration hereditary spastic paraplegia Spastic paraplegia 18, autosomal recessive, 611225 Spastic paraplegia, autosomal dominant Tags
Red List (low evidence)	ETHE1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Ethylmalonic encephalopathy 602473 Tags
Red List (low evidence)	EXOSC3 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Red List (low evidence)	EXOSC8 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia, type 1C, OMIM:616081 Tags
Red List (low evidence)	FA2H Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia fatty acid hydroxylase-associated neurodegeneration Spastic paraplegia 35, autosomal recessive Tags
Red List (low evidence)	FA2H Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes fatty acid hydroxylase-associated neurodegeneration Spastic paraplegia 35, autosomal recessive 612319 Dystonia Tags
Red List (low evidence)	FARS2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 Tags
Red List (low evidence)	FASTKD2 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
Red List (low evidence)	FASTKD2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Dystonia Tags
Red List (low evidence)	FGF14 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 27 Tags
Red List (low evidence)	FIG4 Adult onset neurodegenerative disorder v9.1	8 reviews 3 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Amyotrophic lateral sclerosis 11 OMIM:612577 amyotrophic lateral sclerosis type 11 MONDO:0012945 Charcot-Marie-Tooth disease, type 4J, OMIM:611228 Charcot-Marie-Tooth disease type 4J MONDO:0012640 Tags
Red List (low evidence)	FLVCR1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Posterior Column Ataxia with Retinitis Pigmentosa Ataxia, posterior column, with retinitis pigmentosa, Tags
Red List (low evidence)	FMR1 Hereditary ataxia with onset in adulthood v9.1	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 Red London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Fragile X tremor/ataxia syndrome, OMIM:300623 Tags nucleotide-repeat-expansion
Red List (low evidence)	FMR1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 2 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 Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags nucleotide-repeat-expansion
Red List (low evidence)	FOLR1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Tags
Red List (low evidence)	FOXG1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	FOXP2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Speech-language disorder-1 602081 Tags
Red List (low evidence)	FOXRED1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	FOXRED1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 Dystonia Tags
Red List (low evidence)	FRMD4A Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Agenesis of corpus callosum with facial anomalies and cerebellar ataxia Tags
Red List (low evidence)	FXN Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red List (low evidence)	GAD1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Cerebralpalsy,spasticquadriplegic,1,603513 Tags
Red List (low evidence)	GAMT Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	GAMT Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Cerebral creatine deficiency syndrome 2, 612736 Dystonia Tags
Red List (low evidence)	GBA2 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Red List (low evidence)	GCDH Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Tags
Red List (low evidence)	GIGYF2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Susceptibility to Parkinson disease 11, 607688 {Parkinson disease 11} Tags
Red List (low evidence)	GJC2 Adult onset neurodegenerative disorder v9.1	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Spastic paraplegia 44, autosomal recessive Tags
Red List (low evidence)	GLI3 Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Greig syndrome, 175700 Pallister-Hall syndrome, 146510 Polydactyly type IV, 174700 Polydactyly types A1/B, 174200 Tags
Red List (low evidence)	GLRA1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Red List (low evidence)	GLRA1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Red List (low evidence)	GLRB Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Hyperekplexia 2, 614619 Tags
Red List (low evidence)	GLRB Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Hyperekplexia 2, 614619 Tags
Red List (low evidence)	GNAL Adult onset neurodegenerative disorder v9.1	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes adult-onset cranio-cervical dystonia Dystonia 25, 615073 Tags watchlist
Red List (low evidence)	GNAO1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Phenotypes Neurodevelopmental disorder with involuntary movements, 617493 Tags
Red List (low evidence)	GNAO1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Neurodevelopmental disorder with involuntary movements, 617493 Tags mosaicism
Red List (low evidence)	GOSR2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Red List (low evidence)	GPAA1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Red List (low evidence)	GRID2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Red List (low evidence)	GRM1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 44, OMIM:617691 Tags
Red List (low evidence)	HACE1 Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Spastic paraplegia psychomotor retardation seizure Spastic paraplegia and psychomotor retardation with or without seizures, 616756 Tags
Red List (low evidence)	HEXA Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Hex A pseudodeficiency 272800 GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 Tags
Red List (low evidence)	HFE Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Tags
Red List (low evidence)	HIBCH Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 Tags
Red List (low evidence)	HPCA Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia 2, torsion, autosomal recessive, 224500 generalized dystonia with additional neurological features adolescence-onset segmental dystonia childhood-onset generalized dystonia Tags
Red List (low evidence)	HPRT1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Lesch-Nyhan syndrome, OMIM:300322 Tags
Red List (low evidence)	HPRT1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Lesch-Nyhan syndrome, OMIM:300322 Dystonia Tags
Red List (low evidence)	HSPD1 Adult onset neurodegenerative disorder v9.1	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 13, autosomal dominant, OMIM:605280 Tags
Red List (low evidence)	HTRA2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Parkinson Disease, Dominant Parkinson disease 13, 610297 3-methylglutaconic aciduria, type VIII 617248 Tags
Red List (low evidence)	HTRA2 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Parkinson Disease, Dominant Parkinson disease 13, 610297 3-methylglutaconic aciduria, type VIII 617248 Tags
Red List (low evidence)	HTT Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green	Other	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Huntington disease, OMIM:143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	HTT Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	Other	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Huntington disease, OMIM:143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	HTT Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Huntington disease, OMIM:143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	IBA57 Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Red List (low evidence)	IFIH1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 Tags
Red List (low evidence)	IPPK Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Early Onset Complex Disease Tags
Red List (low evidence)	IPPK Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Early Onset Complex Disease Tags
Red List (low evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region Hereditary ataxia with onset in adulthood v9.1	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 Phenotypes hypotonia episodes of sudden loss of muscle tone short stature severe intellectual disability autistic features eleveated serotonin levels exiting behavior lip-smacking stereotypical hand movements Tags
Red List (low evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region Adult onset dystonia, chorea or related movement disorder v6.1	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 Other Expert Review Red Phenotypes hypotonia episodes of sudden loss of muscle tone short stature severe intellectual disability autistic features eleveated serotonin levels exiting behavior lip-smacking stereotypical hand movements Tags
Red List (low evidence)	ISG15 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Immunodeficiency 38 616126 Tags
Red List (low evidence)	ITPR1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 29 Spinocerebellar ataxia 15 Tags
Red List (low evidence)	IVD Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Isovaleric acidemia Tags
Red List (low evidence)	JPH3 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Huntington disease-like 2, OMIM:606438 Tags
Red List (low evidence)	JPH3 Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	Other	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Huntington disease-like 2, OMIM:606438 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	KCNA1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes myokymia with periodic ataxia Episodic ataxia/myokymia syndrome, EPISODIC ATAXIA, TYPE 1 Tags treatable
Red List (low evidence)	KCNA1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia Tags
Red List (low evidence)	KCNJ10 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome Tags
Red List (low evidence)	KCNK18 Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	Unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH Expert Review Red London North GLH NHS GMS South West GLH Phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 Tags
Red List (low evidence)	KCNK18 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 3 red	Not set	Sources Expert Review Red London North GLH NHS GMS South West GLH Phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 Tags
Red List (low evidence)	KCNK18 Hereditary ataxia with onset in adulthood v9.1	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Susceptibility to migraine with/without arua 13, 613656 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 Tags
Red List (low evidence)	KCNQ2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Myokymia, 121200 Tags
Red List (low evidence)	KCNQ2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia Myokymia, 121200 Tags
Red List (low evidence)	KCNQ3 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Seizures, benign neonatal, type 2, 121201 Tags
Red List (low evidence)	KCNQ3 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Seizures, benign neonatal, type 2, 121201 Tags
Red List (low evidence)	KDM5C Adult onset neurodegenerative disorder v9.1	6 reviews 4 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 Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Expert list Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534 Tags
Red List (low evidence)	KIDINS220 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 Tags
Red List (low evidence)	KIF1A Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 30, autosomal dominant, OMIM:610357 Spastic paraplegia 30, autosomal recessive, OMIM:610357 NESCAV syndrome, OMIM:614255 Tags
Red List (low evidence)	KIF1C Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic ataxia 2, autosomal recessive, OMIM:611302 Tags
Red List (low evidence)	KLC4 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Phenotypes spastic paraplegia progressive complicated spastic paraplegia Tags
Red List (low evidence)	KLC4 Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Expert list Phenotypes spastic paraplegia progressive complicated spastic paraplegia Tags
Red List (low evidence)	KMT2B Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia 28, childhood-onset, OMIM:617284 early-onset dystonia Tags treatable
Red List (low evidence)	L1CAM Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia Tags
Red List (low evidence)	L2HGDH Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes L-2-hydroxyglutaric aciduria, 236792 Dystonia Tags
Red List (low evidence)	L2HGDH Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	MAG Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Spastic paraplegia 75, autosomal recessive, OMIM:616680 Tags
Red List (low evidence)	MAG Adult onset hereditary spastic paraplegia v6.11	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 75, autosomal recessive, OMIM:616680 Tags
Red List (low evidence)	MAPK8IP3 Hereditary ataxia with onset in adulthood v9.1	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 Tags
Red List (low evidence)	MARS Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Tags new-gene-name
Red List (low evidence)	MARS Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Tags new-gene-name
Red List (low evidence)	MAT1A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 Dystonia Tags
Red List (low evidence)	MAT1A Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	MCOLN1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mucolipidosis IV, 252650 Dystonia Tags
Red List (low evidence)	MCOLN1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	MECR Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities Tags
Red List (low evidence)	MECR Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 Tags
Red List (low evidence)	MMACHC Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia and hypogonadism Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Red List (low evidence)	MMADHC Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Methylmalonic aciduria, cblD type, variant 2 Homocystinuria, cblD type, variant 1 Methylmalonic aciduria and homocystinuria, cblD type, 277410 Dystonia Tags
Red List (low evidence)	MMADHC Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	MME Hereditary ataxia with onset in adulthood v9.1	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes ?Spinocerebellar ataxia 43, OMIM:617018 Tags
Red List (low evidence)	MPV17 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Dystonia Tags
Red List (low evidence)	MPV17 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	MR1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS South West GLH Expert Review Red Phenotypes Paroxysmal/Episodic dystonia Dystonia Tags
Red List (low evidence)	MR1 Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Dystonia Paroxysmal/Episodic dystonia Tags
Red List (low evidence)	MRE11 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia-telangiectasia-like disorder Ataxia-Telangiectasia-Like Disorder Tags
Red List (low evidence)	MT-ATP6 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Red NHS GMS London North GLH Tags
Red List (low evidence)	MT-ATP6 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MITOCHONDRIAL	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Neuropathy, Ataxia, and Retinitis Pigmentosa Tags
Red List (low evidence)	MT-ND1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Red NHS GMS London North GLH Tags
Red List (low evidence)	MT-ND6 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Red NHS GMS London North GLH Phenotypes Leber Optic Atrophy And Dystonia Tags
Red List (low evidence)	MT-ND6 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	MITOCHONDRIAL	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Leber Optic Atrophy And Dystonia Tags
Red List (low evidence)	MTPAP Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Ataxia, spastic, 4, Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive Tags
Red List (low evidence)	MTTP Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Abetalipoproteinemia, 200100 Tags
Red List (low evidence)	MUT Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Methylmalonic aciduria, mut(0) type Tags new-gene-name
Red List (low evidence)	MVK Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH Expert Review Red London North GLH NHS GMS South West GLH Phenotypes Mevalonic aciduria, OMIM:610377 Tags
Red List (low evidence)	MVK Hereditary ataxia with onset in adulthood v9.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Mevalonic aciduria, OMIM:610377 Tags
Red List (low evidence)	NAGLU Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes CMT axon type 2V, 616491 Sanfilippo syndrome B (AR) (OMIM #252920) Sensory neuropathy turning into a mild sensory ataxia (AD) Tags
Red List (low evidence)	NAGLU Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920) Tags
Red List (low evidence)	NDUFA1 Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency Tags
Red List (low evidence)	NDUFA10 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Leigh syndrome Tags
Red List (low evidence)	NDUFA12 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Red List (low evidence)	NDUFA12 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Red List (low evidence)	NDUFA2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mitochondrial complex I deficiency, nuclear type 13 Tags
Red List (low evidence)	NDUFA9 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 Leigh syndrome due to mitochondrial complex I deficiency Tags
Red List (low evidence)	NDUFAF2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 Tags
Red List (low evidence)	NDUFAF6 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Leigh syndrome due to mitochondrial complex I deficiency Tags
Red List (low evidence)	NDUFS3 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 8, 618230 Tags
Red List (low evidence)	NDUFS4 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency 252010 Leigh syndrome 256000 Tags
Red List (low evidence)	NDUFS7 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 Tags
Red List (low evidence)	NDUFS8 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 Tags
Red List (low evidence)	NDUFV1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Red List (low evidence)	NEFH Adult onset neurodegenerative disorder v9.1	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes susceptibility to amyotrophic lateral sclerosis (ALS) Tags
Red List (low evidence)	NIPA1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 6, autosomal dominant Spasticparaplegia6,autosomaldominant,600363 Tags
Red List (low evidence)	NKX2-1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Chorea, hereditary benign 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Tags
Red List (low evidence)	NKX6-2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Red List (low evidence)	NKX6-2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy Tags
Red List (low evidence)	NOP56 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Other - please specifiy in evaluation comments	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	NOP56 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Red London North GLH NHS GMS Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	NPC2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Niemann-pick disease, type C2, 607625 Dystonia Tags
Red List (low evidence)	NR4A2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Parkinson Disease, Dominant/Recessive (susceptibility to) Tags
Red List (low evidence)	NT5C2 Adult onset neurodegenerative disorder v9.1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 45, autosomal recessive, 613162 Tags
Red List (low evidence)	NUP62 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Striatonigral degeneration, infantile Striatonigral degeneration, infantile 271930 Tags
Red List (low evidence)	OCLN Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 Tags
Red List (low evidence)	OPA3 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Costeff syndrome 3-methylglutaconic aciduria, type III, 258501 Tags
Red List (low evidence)	OPA3 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome Tags
Red List (low evidence)	OPHN1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 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 Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Red List (low evidence)	PAX2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Ataxia,spastic2,autosomal recessive Papillorenal syndrome, AR Tags
Red List (low evidence)	PAX2 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Ataxia,spastic2,autosomalrecessive(2) Tags
Red List (low evidence)	PAX6 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Red List (low evidence)	PAX6 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Aniridia, 106210 Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Red List (low evidence)	PCCA Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Propionicacidemia Tags
Red List (low evidence)	PCCB Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Propionicacidemia Tags
Red List (low evidence)	PCDH12 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes intellectual disability Microcephaly perithalamic hyperechogenicity midbrain abnormalities hypothalamic abnormalities epilepsy microcephaly periventricular hyperechogenicity Tags
Red List (low evidence)	PCDH12 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Phenotypes microcephaly perithalamic hyperechogenicity midbrain abnormalities intellectual disability epilepsy periventricular hyperechogenicity hypothalamic abnormalities Tags
Red List (low evidence)	PCDH12 Adult onset neurodegenerative disorder v9.1	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 List (low evidence)	PCLO Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. Pontocerebellar hypoplasia type 3, 608027 Tags
Red List (low evidence)	PCLO Adult onset neurodegenerative disorder v9.1	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 List (low evidence)	PDE10A Adult onset dystonia, chorea or related movement disorder v6.1	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Striatal degeneration, autosomal dominant, OMIM:616922 Dyskinesia, limb and orofacial, infantile-onset, OMIM:616921 Tags
Red List (low evidence)	PDHA1 Adult onset dystonia, chorea or related movement disorder v6.1	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 London North GLH Phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 Tags
Red List (low evidence)	PDHX Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	PDHX Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Lacticacidemia due to PDX1 deficiency, 245349 Dystonia Tags
Red List (low evidence)	PDP1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Tags
Red List (low evidence)	PDX1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes MODY, type IV 606392 Pancreatic agenesis 1 260370 Pancreatic agenesis 1 Tags
Red List (low evidence)	PDYN Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 23 Spinocerebellar ataxia 23, 610245 Tags
Red List (low evidence)	PDYN Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 23 Tags
Red List (low evidence)	PEX16 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Tags
Red List (low evidence)	PGAP1 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red List (low evidence)	PGAP1 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Tags
Red List (low evidence)	PI4KA Hereditary ataxia with onset in adulthood v9.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531 Tags
Red List (low evidence)	PIK3R5 Hereditary ataxia with onset in adulthood v9.1	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Ataxia-oculomotor apraxia 3, 615217 Ataxia-oculomotor apraxia 3 Tags
Red List (low evidence)	PIK3R5 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ataxia-oculomotor apraxia 3 Tags
Red List (low evidence)	PLP1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia Spastic paraplegia 2, X-linked Tags
Red List (low evidence)	PMPCA Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. Tags
Red List (low evidence)	PNKD Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 Paroxysmal nonkinesigenic dyskinesia, 118800 Tags
Red List (low evidence)	PNKP Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia with oculomotor apraxia 4 (#616267) Tags
Red List (low evidence)	PNPLA6 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH 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
Red List (low evidence)	PNPT1 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	PNPT1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Dystonia Tags
Red List (low evidence)	POLG2 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131 Tags
Red List (low evidence)	POLR3A Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Autosomal Recessive Ataxia Tags
Red List (low evidence)	PPP2R2B Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	Other	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	PPP2R2B Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	Other	Sources NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	PPP2R2B Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	Other	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	PRICKLE1 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Epilepsy, progressive myoclonic 1B, OMIM:612437 Tags
Red List (low evidence)	PRICKLE1 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epilepsy, progressive myoclonic 1B, OMIM:612437 Tags
Red List (low evidence)	PRKCG Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 14 Tags
Red List (low evidence)	PRRT2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH 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
Red List (low evidence)	PSEN1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Pick disease, 172700 Dementia, frontotemporal 600274 Alzheimer disease, type 3, 607822 Cardiomyopathy, dilated, 1U, 613694 Dystonia Tags
Red List (low evidence)	PTEN Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Cowden syndrome 1, 158350 Macrocephaly/autism syndrome, 605309 Lhermitte-Duclos syndrome, 158350 VATER association with macrocephaly and ventriculomegaly, 276950 Dystonia Tags
Red List (low evidence)	PTEN Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	PTS Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	QDPR Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	RAB39B Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 2 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 Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes early-onset parkinsonism and intellectual disability Waisman syndrome, OMIM:311510 Tags
Red List (low evidence)	RAB3GAP2 Adult onset neurodegenerative disorder v9.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Martsolf syndrome 1, OMIM:212720 Tags
Red List (low evidence)	RARS2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes epilepsy Pontocerebellar hypoplasia Tags
Red List (low evidence)	REEP1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 31, autosomal dominant Tags
Red List (low evidence)	REEP2 Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes ?Spastic paraplegia 72, autosomal recessive, 615625 ?Spastic paraplegia 72, autosomal dominant,615625 Tags
Red List (low evidence)	RELN Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red List (low evidence)	RELN Hereditary ataxia with onset in adulthood v9.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Lissencephaly 2, 257320 Tags
Red List (low evidence)	RFC1 Hereditary ataxia with onset in adulthood v9.1	6 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720 Tags STR
Red List (low evidence)	RFC1_AAGGG STR Hereditary ataxia with onset in adulthood v9.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM: 614575 Tags NGS Not Validated STR
Red List (low evidence)	RNASEH2A Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	RNASEH2A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Aicardi-Goutieres syndrome 4, 610333 Dystonia Tags
Red List (low evidence)	RNASEH2B Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Dystonia (onset in infancy) Tags
Red List (low evidence)	RNASEH2B Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Dystonia (onset in infancy) Tags
Red List (low evidence)	RNASEH2C Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	RNASEH2C Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Aicardi-Goutieres syndrome 3, 610329 Dystonia Tags
Red List (low evidence)	RNF170 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia, sensory, 1, autosomal dominant Tags
Red List (low evidence)	RTN2 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 12, autosomal dominant Tags
Red List (low evidence)	RUBCN Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 Tags
Red List (low evidence)	RUBCN Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red List (low evidence)	SACS Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic ataxia, Charlevoix-Saguenay type Tags
Red List (low evidence)	SAMHD1 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	SAMHD1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Aicardi-Goutieres syndrome 5, 612952 Dystonia Tags
Red List (low evidence)	SAR1B Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Chylomicron retention disease 246700 Tags treatable
Red List (low evidence)	SCN1A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Dravet syndrome several epilepsy, convulsion and migraine disorders. familial hemiplegic migraine 3 Tags
Red List (low evidence)	SCN1A Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes several epilepsy, convulsion and migraine disorders. familial hemiplegic migraine 3 Dravet syndrome Tags
Red List (low evidence)	SCN8A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes epilepsy paroxysmal kinesigenic dyskinesias Tags
Red List (low evidence)	SCN8A Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes epilepsy Cognitive impairment with or without cerebellar ataxia, 614306 paroxysmal kinesigenic dyskinesias Tags
Red List (low evidence)	SCN9A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Paroxysmal extreme pain disorder, 167400 Erythermalgia, primary, 133020 Erythermalgia, Primary Paroxysmal Extreme Pain Disorder Congenital Indifference to Pain Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Insensitivity to pain, channelopathy-associated, 243000 Dysosteosclerosis Hereditary Sensory Neuropathy Febrile seizures, familial, 3B, 613863 Tags
Red List (low evidence)	SCN9A Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Brain channelopathy v1.46 Phenotypes Paroxysmal extreme pain disorder, 167400 Congenital Indifference to Pain Paroxysmal Extreme Pain Disorder Hereditary Sensory Neuropathy Febrile seizures, familial, 3B, 613863 Dysosteosclerosis Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Insensitivity to pain, channelopathy-associated, 243000 Erythermalgia, primary, 133020 Erythermalgia, Primary Tags
Red List (low evidence)	SCN9A Adult onset neurodegenerative disorder v9.1	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 List (low evidence)	SCP2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, 613724 ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 Tags
Red List (low evidence)	SCP2 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, 613724 Tags
Red List (low evidence)	SDHA Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Cardiomyopathy, dilated, 1GG, 613642 Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Red List (low evidence)	SDHAF1 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	SDHAF1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mitochondrial complex II deficiency, 252011 Dystonia Tags
Red List (low evidence)	SEPSECS Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Pontocerebellar hypoplasia type 2D (613811) Tags
Red List (low evidence)	SERAC1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Red List (low evidence)	SERAC1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Red List (low evidence)	SGCE Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Myoclonus dystonia syndrome Myoclonus-Dystonia maternally imprinted Dystonia-11, myoclonic, 159900 Tags
Red List (low evidence)	SGIP1 Adult onset neurodegenerative disorder v9.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Early-onset parkinsonism Tags
Red List (low evidence)	SIL1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Red List (low evidence)	SLC16A2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 Tags
Red List (low evidence)	SLC19A3 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	SLC1A3 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes EPISODIC ATAXIA, TYPE 6 Episodic ataxia, type 6, Tags
Red List (low evidence)	SLC1A3 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes EPISODIC ATAXIA, TYPE 6 Tags
Red List (low evidence)	SLC1A4 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 Tags
Red List (low evidence)	SLC25A19 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 Microcephaly, Amish type 607196 Tags
Red List (low evidence)	SLC25A32 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Riboflavin-responsive exericise intolerance, 616839 Tags
Red List (low evidence)	SLC25A46 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Red NHS GMS London North GLH Phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 Tags
Red List (low evidence)	SLC25A46 Adult onset neurodegenerative disorder v9.1	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Neuropathy, hereditary motor and sensory, type VIB 616505 Tags
Red List (low evidence)	SLC2A1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH 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
Red List (low evidence)	SLC33A1 Adult onset neurodegenerative disorder v9.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spastic paraplegia 42, autosomal dominant, Tags
Red List (low evidence)	SLC33A1 Adult onset hereditary spastic paraplegia v6.11	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD Spastic paraplegia 42, autosomal dominant Tags
Red List (low evidence)	SLC39A14 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Hypermanganesemia with dystonia 2 617013 Tags
Red List (low evidence)	SLC39A14 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Hypermanganesemia with dystonia 2 Tags
Red List (low evidence)	SLC41A1 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) Tags
Red List (low evidence)	SLC41A1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) Tags
Red List (low evidence)	SLC46A1 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	SLC46A1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Folate malabsorption, hereditary, OMIM:229050 Tags
Red List (low evidence)	SLC52A1 Adult onset neurodegenerative disorder v9.1	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 List (low evidence)	SLC52A2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Brown-Vialetto-Van Laere syndrome 2 Tags treatable
Red List (low evidence)	SLC52A3 Adult onset neurodegenerative disorder v9.1	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Fazio-Londe disease Brown-Vialetto-Van Laere syndrome 1 Tags
Red List (low evidence)	SLC6A3 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Parkinsonism-dystonia, infantile, 613135 Tags
Red List (low evidence)	SLC6A3 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Parkinsonism-dystonia, infantile, 613135 {Nicotine dependence, protection against}, 188890 Tags
Red List (low evidence)	SLC6A5 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Hyperekplexia 3, 614618 Tags
Red List (low evidence)	SLC6A5 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Hyperekplexia 3, 614618 Tags
Red List (low evidence)	SLC6A5 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Hyperekplexia 3, 614618 Tags
Red List (low evidence)	SLC9A6 Adult onset neurodegenerative disorder v9.1	4 reviews 4 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 Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Red List (low evidence)	SMPD4 Hereditary ataxia with onset in adulthood v9.1	3 reviews 2 red	Not set	Sources London North GLH NHS GMS Wessex and West Midlands GLH Tags
Red List (low evidence)	SNCAIP Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Parkinson Disease, Dominant/Recessive Tags
Red List (low evidence)	SNCAIP Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Parkinson Disease, Dominant/Recessive Tags
Red List (low evidence)	SNX14 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Autosomal recessive spinocerebellar ataxia (#616354) Tags
Red List (low evidence)	SPART Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Troyer syndrome, OMIM:275900 Tags
Red List (low evidence)	SPR Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags treatable
Red List (low evidence)	SPR Adult onset dystonia, chorea or related movement disorder v6.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags watchlist_moi
Red List (low evidence)	SPR Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags watchlist_moi
Red List (low evidence)	SPTBN2 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 Tags
Red List (low evidence)	SRD5A3 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Red List (low evidence)	SUCLA2 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	SUCLA2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Tags
Red List (low evidence)	SUCLG1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 Tags
Red List (low evidence)	SUOX Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	SUOX Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Sulfite oxidase deficiency, 272300 Dystonia Tags
Red List (low evidence)	SURF1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000 Tags
Red List (low evidence)	SYNE1 Adult onset neurodegenerative disorder v9.1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Cerebellar Ataxia Spinocerebellar ataxia, autosomal recessive 8 Tags
Red List (low evidence)	SYT14 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229 Autosomal recessive spinocerebellar ataxia 11, 614229 Tags
Red List (low evidence)	SYT14 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red List (low evidence)	TAF15 Adult onset neurodegenerative disorder v9.1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	TBP Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	Other	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	TBP Adult onset dystonia, chorea or related movement disorder v6.1	3 reviews 2 red	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	TBP Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	Other	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	TDP1 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive with axonal neuropathy Tags
Red List (low evidence)	TECPR2 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Tags
Red List (low evidence)	TERT Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Tags
Red List (low evidence)	TET2 Adult onset neurodegenerative disorder v9.1	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	TFG Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 Tags
Red List (low evidence)	TGM6 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 35, 613908 Spinocerebellar ataxia 35 Tags
Red List (low evidence)	TGM6 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 35, 613908 Tags
Red List (low evidence)	TH Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Segawa syndrome paediatric form of dopa responsive dystonia infantile parkinsonism DOPA-responsive dystonia Segawa syndrome, recessive, 605407 Tags
Red List (low evidence)	TH Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Segawa syndrome DOPA-responsive dystonia infantile parkinsonism Segawa syndrome, recessive, 605407 paediatric form of dopa responsive dystonia Tags treatable
Red List (low evidence)	THAP1 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia Dystonia 6, torsion, 602629 DYT6 Tags
Red List (low evidence)	THG1L Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia with developmental delay Tags
Red List (low evidence)	TIA1 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	Not set	Sources NHS GMS London North GLH Tags
Red List (low evidence)	TIMM8A Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome Tags
Red List (low evidence)	TINF2 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal dominant dyskeratosis congenita 3, 613990 Revesz syndrome, 268130 Tags
Red List (low evidence)	TOR1A Adult onset neurodegenerative disorder v9.1	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441 Tags
Red List (low evidence)	TPK1 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red List (low evidence)	TPK1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Dystonia Tags
Red List (low evidence)	TPP1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Tags
Red List (low evidence)	TREM2 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Frontotemporal dementia Alzheimers disease Dystonia Tags
Red List (low evidence)	TREX1 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Dystonia Tags
Red List (low evidence)	TSEN15 Hereditary ataxia with onset in adulthood v9.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia, type 2F, OMIM:617026 Tags
Red List (low evidence)	TSEN2 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Pontocerebellar hypoplasia 2B, 612389 Tags
Red List (low evidence)	TSEN34 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia 2C, 612390 Pontocerebellar hypoplasia 2C (612390) Tags
Red List (low evidence)	TSEN34 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pontocerebellar hypoplasia 2C (612390) Tags
Red List (low evidence)	TSEN54 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Pontocerebellar hypoplasia 2A, 277470 Pontocerebellar hypoplasia 4, 225753 Tags
Red List (low evidence)	TTBK2 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 11 Tags
Red List (low evidence)	TTC19 Hereditary ataxia with onset in adulthood v9.1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Red List (low evidence)	TTPA Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Tags
Red List (low evidence)	TUBA1A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Lissencephaly 3 611603 Tags
Red List (low evidence)	TUBA8 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain malformations 8, 613180 Tags
Red List (low evidence)	TUBB Hereditary ataxia with onset in adulthood v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain malformations 6, 615771 Tags
Red List (low evidence)	TUBB2A Hereditary ataxia with onset in adulthood v9.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Red List (low evidence)	TWNK Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR) Perrault syndrome 5, OMIM:616138 (AR) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) Tags
Red List (low evidence)	UBR4 Adult onset neurodegenerative disorder v9.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Episodic ataxia Tags
Red List (low evidence)	UBR4 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Episodic ataxia Episodic ataxia type 8, 616055 Tags
Red List (low evidence)	UCHL1 Adult onset neurodegenerative disorder v9.1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {?Parkinson disease 5, susceptibility to}, OMIM:613643 Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340 Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags
Red List (low evidence)	UNC13A Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	USP8 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Tags
Red List (low evidence)	USP8 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red List (low evidence)	VAC14 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Striatonigral degeneration, childhood-onset Tags
Red List (low evidence)	VAC14 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Striatonigral degeneration, childhood-onset 617054 Tags
Red List (low evidence)	VAMP1 Adult onset neurodegenerative disorder v9.1	5 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags founder-effect watchlist
Red List (low evidence)	VEGFA Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	VLDLR Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Red List (low evidence)	VPS13D Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 Tags
Red List (low evidence)	VPS37A Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 2 red	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Spastic paraplegia 53, autosomal recessive, 614898 Dystonia Tags
Red List (low evidence)	VPS37A Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Dystonia Spastic paraplegia 53, autosomal recessive Tags
Red List (low evidence)	VPS53 Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Pontocerebellar hypoplasia 2E (#615851) Tags
Red List (low evidence)	WASHC5 Adult onset neurodegenerative disorder v9.1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 8, autosomal dominant Tags
Red List (low evidence)	WDR45B Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 Tags
Red List (low evidence)	WDR48 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red List (low evidence)	WDR73 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature Galloway-Mowat syndrome 1, 251300 Tags
Red List (low evidence)	WDR73 Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Galloway-Mowat syndrome 1, 251300 Tags
Red List (low evidence)	WDR81 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Tags
Red List (low evidence)	WFS1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Wolfram syndrome 1, 222300 Tags
Red List (low evidence)	WWOX Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Autosomal recessive spinocerebellar ataxia 12, 614322 Tags
Red List (low evidence)	XRCC1 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 Tags
Red List (low evidence)	YY1 Adult onset neurodegenerative disorder v9.1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Gabriele-de Vries syndrome 617557 Tags
Red List (low evidence)	ZEB2 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	Not set	Sources NHS GMS Yorkshire and North East GLH South West GLH Tags
Red List (low evidence)	ZEB2 Adult onset neurodegenerative disorder v9.1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ZFYVE26 Adult onset neurodegenerative disorder v9.1	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH 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
Red List (low evidence)	ZFYVE27 Adult onset neurodegenerative disorder v9.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spastic paraplegia 33, autosomal dominant Tags
Red List (low evidence)	ZFYVE27 Adult onset hereditary spastic paraplegia v6.11	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH South West GLH Phenotypes Spastic paraplegia 33, autosomal dominant Tags
Red List (low evidence)	ZNF592 Adult onset neurodegenerative disorder v9.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 5 Tags
Red List (low evidence)	ZNF592 Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Galloway-Mowat Syndrome 1, 251300 Spinocerebellar ataxia, autosomal recessive 5 Tags
No list	HTT_CAG STR Adult onset dystonia, chorea or related movement disorder v6.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed NHS GMS London North GLH Expert list Phenotypes Huntington disease, OMIM:143100 Tags curated_removed STR
No list	HTT_CAG STR Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Wessex and West Midlands GLH Expert list Phenotypes Huntington disease, OMIM:143100 Tags curated_removed STR
No list	HTT_CAG STR Adult onset hereditary spastic paraplegia v6.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed NHS GMS South West GLH London North GLH Expert list Phenotypes Huntington disease, OMIM:143100 Tags curated_removed STR
No list	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region Adult onset neurodegenerative disorder v9.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed NHS GMS London North GLH Phenotypes 105831 Angelman syndrome Developmental delay, muscle weakness Mental retardation 176270 microcephaly Prader-Willi syndrome Tags curated_removed
No list	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region Hereditary ataxia with onset in adulthood v9.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes 105831 Angelman syndrome Developmental delay, muscle weakness Mental retardation 176270 microcephaly Prader-Willi syndrome Tags curated_removed
No list	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region Adult onset neurodegenerative disorder v9.1	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 Removed 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 curated_removed
No list	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Gain Region Adult onset neurodegenerative disorder v9.1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed NHS GMS London North GLH 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 curated_removed

Adult-onset neurological disorders (Version 9.4)

1056 Entities

1009 reviewed, 451 green

2 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews