Adult onset neurodegenerative disorder (Version 4.47)

The latest signed off version for the GMS is v4.34. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R58 Adult onset neurodegenerative disorder' in the NHS Genomic Medicine Service.

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

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

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

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

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

Panel Activity

22 reviewers

Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
alisdair mcneill (Sheffield childrens hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Anthony Dallosso (Bristol Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Healx)

Group: Other biotech or pharmaceutical
Workplace: Industry
James Polke (North Thames GLH)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Katherine Schon (University of Cambridge)

Group: GeCIP domain
Workplace: NHS clinical service
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab
Jemeen Sreedharan (King's College London)

Group: Other NHS organisation
Workplace: Research lab

434 Entities

387 reviewed, 118 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 434 Entitiess
Green Green List (high evidence)	ABCD1	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 Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Hereditary spastic paraplegia, MONDO:0019064 adrenal failure VLCFA accumulation spastic paraparesis Tags
Green Green List (high evidence)	AFG3L2	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Ataxia, spastic, 5, autosomal recessive, OMIM:614487 Dystonia Tags
Green Green List (high evidence)	ALS2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Tags
Green Green List (high evidence)	ANG	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 9, 611895 Tags
Green Green List (high evidence)	ANXA11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Amytrophic lateral sclerosis 23, OMIM:617839 Tags
Green Green List (high evidence)	APP	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Alzheimer disease 1, familial, OMIM:104300 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714 Tags
Green Green List (high evidence)	AR_CAG STR	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green Green List (high evidence)	ARSA	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Metachromatic leukodystrophy, OMIM:250100 Dystonia Tags
Green Green List (high evidence)	ATN1_CAG STR	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags STR
Green Green List (high evidence)	ATP13A2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Kufor-Rakeb syndrome, OMIM:606693 Dystonia Spastic paraplegia 78, autosomal recessive, OMIM:617225 Tags
Green Green List (high evidence)	ATP1A3	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OMIM:614820 CAPOS syndrome, OMIM:601338 DYSTONIA 12, OMIM:128235 Rapid-Onset Dystonia-Parkinsonism Tags treatable
Green Green List (high evidence)	ATP7B	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Wilson disease, OMIM: 277900 Dystonia Tags treatable
Green Green List (high evidence)	AUH	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Dystonia Tags
Green Green List (high evidence)	C19orf12	7 reviews 4 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
Green Green List (high evidence)	C9orf72_GGGGCC STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags STR
Green Green List (high evidence)	CACNA1G	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 42, OMIM:616795 Tags
Green Green List (high evidence)	CCNF	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, OMIM:619141 Tags
Green Green List (high evidence)	CHCHD10	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS South West GLH Yorkshire and North East GLH Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209 Tags
Green Green List (high evidence)	CHCHD2	5 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson disease 22, autosomal dominant, OMIM:616710 Tags
Green Green List (high evidence)	CHMP2B	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795 Dystonia Tags
Green Green List (high evidence)	CLCN2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukoencephalopathy with ataxia, OMIM:615651 Tags
Green Green List (high evidence)	CLN6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ceroid lipofuscinosis, neuronal, 6, OMIM:601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300 Tags
Green Green List (high evidence)	COASY	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes COASY protein-associated neurodegeneration Neurodegeneration with brain iron accumulation 6, OMIM:615643 Tags
Green Green List (high evidence)	COL4A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS 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 Green List (high evidence)	COL4A2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Brain small vessel disease 2, OMIM:614483 {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 Tags
Green Green List (high evidence)	CP	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Cerebellar ataxia, OMIM:604290 Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 Tags
Green Green List (high evidence)	CSF1R	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Tags adult-onset
Green Green List (high evidence)	CTSA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 Tags
Green Green List (high evidence)	CTSF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 Tags
Green Green List (high evidence)	CYP27A1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700 progressive lower extremity spasticity,often disproportionate to any degree of weakness Tags
Green Green List (high evidence)	CYP7B1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 5A, autosomal recessive, OMIM:270800 Tags
Green Green List (high evidence)	DARS2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 Tags
Green Green List (high evidence)	DCTN1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Neuropathy, distal hereditary motor, type VIIB, OMIM:607641 Perry syndrome, OMIM:168605 {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400 Tags
Green Green List (high evidence)	DNAJB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881 young adult-onset distal hereditary motor neuropathy, MONDO:0013947 Tags
Green Green List (high evidence)	DNAJC5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, OMIM:162350 Tags
Green Green List (high evidence)	DNAJC6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson disease 19b, early-onset, OMIM:615528 Parkinson disease 19a juvenile-onset, OMIM:615528 juvenile onset Parkinson disease 19A, MONDO:0014231 Tags
Green Green List (high evidence)	DNMT1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121 Tags
Green Green List (high evidence)	EIF2B1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green Green List (high evidence)	EIF2B2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green Green List (high evidence)	EIF2B3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green Green List (high evidence)	EIF2B4	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green Green List (high evidence)	EIF2B5	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 Tags
Green Green List (high evidence)	ELOVL4	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 34, OMIM:133190 Tags
Green Green List (high evidence)	EPM2A	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), OMIM:254780 Tags
Green Green List (high evidence)	ERBB4	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 Green List (high evidence)	FBXO7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Parkinson disease 15, autosomal recessive, OMIM:260300 Tags
Green Green List (high evidence)	FTL	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Neurodegeneration with brain iron accumulation 3, OMIM:606159 Tags
Green Green List (high evidence)	FUS	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, OMIM:608030 Tags
Green Green List (high evidence)	GBE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Polyglucosan body disease, adult form, OMIM:263570 adult polyglucosan body disease, MONDO:0009897 Tags
Green Green List (high evidence)	GCH1	6 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230 Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910 Spastic paraplegia Tags
Green Green List (high evidence)	GFAP	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Autosomal Dominant Ataxia Alexander disease, OMIM:203450 Tags
Green Green List (high evidence)	GLA	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 list Expert Review Green NHS GMS Phenotypes Fabry disease, OMIM:301500 Tags
Green Green List (high evidence)	GRN	7 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485 Aphasia, primary progressive, OMIM:607485 Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 Tags
Green Green List (high evidence)	GSN	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Amyloidosis, Finnish type, OMIM:105120 Finnish type amyloidosis, MONDO:0007097 Tags
Green Green List (high evidence)	HEXA	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes GM2-gangliosidosis, several forms, OMIM:272800 Tay-Sachs disease, OMIM:272800 Tags
Green Green List (high evidence)	HEXB	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green Green List (high evidence)	HNRNPA1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3, OMIM:615424, Amyotrophic lateral sclerosis 20, OMIM:615426 Tags
Green Green List (high evidence)	HTRA1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East 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 Green List (high evidence)	HTT_CAG STR	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Huntington disease, OMIM:143100 Tags STR
Green Green List (high evidence)	ITM2B	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dementia, familial British, OMIM:176500 ABri amyloidosis, MONDO:0008306 Dementia, familial Danish, OMIM:117300 ADan amyloidosis, MONDO:0007297 Tags
Green Green List (high evidence)	JPH3_CTG STR	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green Green List (high evidence)	KCNC3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 13, OMIM:605259 Tags
Green Green List (high evidence)	KCND3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellarataxia19, OMIM:607346 Tags
Green Green List (high evidence)	KIAA1161	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 Tags gene-checked new-gene-name
Green Green List (high evidence)	KIF5A	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 10, autosomal dominant, OMIM:604187 Tags
Green Green List (high evidence)	LAMB1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Lissencephaly 5, OMIM:615191 cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 Tags
Green Green List (high evidence)	LRRK2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes LRRK2 G2019S mutation {Parkinson disease 8}, OMIM:607060 Tags curated-variant-list missense
Green Green List (high evidence)	LYST	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Chediak-Higashi syndrome, OMIM:214500 peripheral neuropathy Parkinsonism spastic paraplegia Tags
Green Green List (high evidence)	MAPT	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH 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 Green List (high evidence)	NEK1	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 Green List (high evidence)	NHLRC1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), OMIM:254780 Tags
Green Green List (high evidence)	NOTCH3	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 Tags
Green Green List (high evidence)	NPC1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Niemann-Pick disease, type C1, OMIM:257220 Niemann-Pick disease, type D, OMIM:257220 Tags
Green Green List (high evidence)	NPC2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Niemann-Pick disease, type C2, OMIM:607625 Tags
Green Green List (high evidence)	OPTN	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, OMIM:613435 Tags
Green Green List (high evidence)	PANK2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Neurodegeneration with brain iron accumulation 1, OMIM:234200 Tags
Green Green List (high evidence)	PARK7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson disease 7, autosomal recessive early-onset, OMIM:606324 Tags
Green Green List (high evidence)	PDGFB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Basal ganglia calcification, idiopathic, 5, OMIM:615483 Tags
Green Green List (high evidence)	PDGFRB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Basal ganglia calcification, idiopathic, 4, OMIM:615007 Tags
Green Green List (high evidence)	PFN1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 18, OMIM:614808 Tags
Green Green List (high evidence)	PINK1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson disease 6, early onset, OMIM:605909 Dystonia Tags
Green Green List (high evidence)	PLA2G6	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953 Neurodegeneration with brain iron accumulation 2B, OMIM:610217 Tags
Green Green List (high evidence)	PRKN	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson disease, juvenile, type 2, OMIM:600116 Dystonia Tags
Green Green List (high evidence)	PRNP	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Creutzfeldt-Jakob disease, OMIM:123400 Huntington disease-like 1, OMIM:603218 Dementia Gerstmann-Straussler disease, OMIM:137440 Tags
Green Green List (high evidence)	PSAP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes {Parkinson disease 24, autosomal dominant, susceptibility to}, OMIM:619491 Tags
Green Green List (high evidence)	PSEN1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH 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 Green List (high evidence)	PSEN2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Alzheimer disease-4, OMIM:606889 Alzheimer disease 4, MONDO:0011743 Tags
Green Green List (high evidence)	RNF216	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 Tags
Green Green List (high evidence)	SETX	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
Green Green List (high evidence)	SLC20A2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Basal ganglia calcification, idiopathic, 1, OMIM:158378 Tags
Green Green List (high evidence)	SNCA	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson disease 4, OMIM:605543 Parkinson disease 1, OMIM:168601 Dementia, Lewy body, OMIM:127750 Tags gene-duplication
Green Green List (high evidence)	SOD1	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 1, OMIM:105400 Tags
Green Green List (high evidence)	SPAST	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438 Tags
Green Green List (high evidence)	SPG11	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH 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 Green List (high evidence)	SPG21	6 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic Paraplegia, Recessive Tags
Green Green List (high evidence)	SPG7	6 reviews 3 green 3 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Green Green List (high evidence)	SQSTM1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437 Tags
Green Green List (high evidence)	SS18L1	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 Green List (high evidence)	STUB1	8 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Green List (high evidence)	SYNJ1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson disease 20, early-onset, OMIM:615530 Tags
Green Green List (high evidence)	TARDBP	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, OMIM:612069 Tags polygenic
Green Green List (high evidence)	TBK1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 Tags
Green Green List (high evidence)	TBP_CAG STR	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green Green List (high evidence)	TMEM240	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 21, OMIM:607454 Tags
Green Green List (high evidence)	TREM2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193 Dystonia Tags
Green Green List (high evidence)	TREX1	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 Green List (high evidence)	TTC19	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157 Tags
Green Green List (high evidence)	TTR	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Amyloidosis, hereditary, transthyretin-related, OMIM:105210 Carpal tunnel syndrome, familial, OMIM:115430 Tags
Green Green List (high evidence)	TYROBP	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770 Tags
Green Green List (high evidence)	UBQLN2	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 Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, OMIM:300857 Tags
Green Green List (high evidence)	VAPB	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 8, OMIM:608627 Tags
Green Green List (high evidence)	VCP	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954 Tags
Green Green List (high evidence)	VPS13A	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Choreoacanthocytosis, OMIM:200150 Tags
Green Green List (high evidence)	VPS35	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes {Parkinson disease 17}, OMIM:614203 Tags missense
Green Green List (high evidence)	VRK1	7 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Green List (high evidence)	WDR45	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 Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Neurodegeneration with brain iron accumulation 5, OMIM:300894 Tags
Green Green List (high evidence)	XK	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 Literature NHS GMS Phenotypes McLeod syndrome with or without chronic granulomatous disease, OMIM:300842 McLeod neuroacanthocytosis syndrome, MONDO:0018945 Tags
Green Green List (high evidence)	XPR1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Basal ganglia calcification, idiopathic, 6, OMIM:605237 Tags
Amber Amber List (moderate evidence)	AP5Z1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 48, autosomal recessive, OMIM:613647 Tags
Amber Amber List (moderate evidence)	ARHGEF28	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis, MONDO:0004976 Tags
Amber Amber List (moderate evidence)	ATP2B3	3 reviews 1 red	Unknown	Sources Expert Review Amber NHS GMS South West GLH Yorkshire and North East GLH Phenotypes ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 Tags
Amber Amber List (moderate evidence)	ATP6AP2	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS South West GLH Yorkshire and North East GLH Phenotypes ?Parkinsonism with spasticity, X-linked, OMIM:300911 Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423 Tags watchlist
Amber Amber List (moderate evidence)	ATXN10_ATTCT STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags STR watchlist
Amber Amber List (moderate evidence)	ATXN1_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR watchlist
Amber Amber List (moderate evidence)	ATXN2_CAG STR	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags STR watchlist
Amber Amber List (moderate evidence)	ATXN3_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR watchlist
Amber Amber List (moderate evidence)	ATXN7_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR watchlist
Amber Amber List (moderate evidence)	CACNA1A_CAG STR	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR watchlist
Amber Amber List (moderate evidence)	CCDC88C	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS South West GLH Yorkshire and North East GLH Phenotypes ?Spinocerebellar ataxia 40, OMIM:616053 Tags
Amber Amber List (moderate evidence)	CIZ1	5 reviews 3 red	Unknown	Sources Expert Review Amber London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia 23, MONDO:0013928 Tags
Amber Amber List (moderate evidence)	COQ2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes {Multiple system atrophy, susceptibility to}, OMIM:146500 Tags
Amber Amber List (moderate evidence)	CST3	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Phenotypes Cerebral amyloid angiopathy, OMIM:105150 Tags
Amber Amber List (moderate evidence)	CSTB_CCCCGCCCCGCG STR	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR watchlist
Amber Amber List (moderate evidence)	DNAJC13	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Tags
Amber Amber List (moderate evidence)	DNAJC7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes amyotrophic lateral sclerosis Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	EIF4G1	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 Amber List (moderate evidence)	EWSR1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis, MONDO:0004976 Tags
Amber Amber List (moderate evidence)	FXN_GAA STR	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR watchlist
Amber Amber List (moderate evidence)	GBA	6 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Gaucher disease, type I, OMIM:230800 Tags new-gene-name treatable
Amber Amber List (moderate evidence)	GCDH	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 Amber List (moderate evidence)	GIGYF2	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 Amber List (moderate evidence)	GLT8D1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes familial amyotrophic lateral sclerosis, MONDO:0005144 Tags
Amber Amber List (moderate evidence)	HNRNPA2B1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis, MONDO:0004976 ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 Tags
Amber Amber List (moderate evidence)	MARS2	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic ataxia 3, autosomal recessive, OMIM:611390 Tags cnv gene-duplication
Amber Amber List (moderate evidence)	MATR3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 21, OMIM:606070 Tags
Amber Amber List (moderate evidence)	NAA60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes NAA60 associated autosomal recessive primary familial brain calcifications Tags Q2_24_MOI Q2_24_NHS_review Q2_24_promote_green
Amber Amber List (moderate evidence)	NOP56_GGCCTG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR watchlist
Amber Amber List (moderate evidence)	NR4A2	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 Amber List (moderate evidence)	PPP2R2B_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR watchlist
Amber Amber List (moderate evidence)	PRKRA	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia 16, OMIM:612067 Tags
Amber Amber List (moderate evidence)	PRPH	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710 Tags
Amber Amber List (moderate evidence)	SIGMAR1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes ?Amyotrophic lateral sclerosis 16, juvenile, OMIM:614373 Tags
Amber Amber List (moderate evidence)	SLC30A10	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 Tags treatable
Amber Amber List (moderate evidence)	SNCB	3 reviews	Unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Dementia, Lewy body, OMIM:127750 Tags
Amber Amber List (moderate evidence)	SORL1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Alzheimer's Disease Tags
Amber Amber List (moderate evidence)	TAF1	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 London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia-Parkinsonism, X-linked, OMIM:314250 Tags
Amber Amber List (moderate evidence)	TUBA4A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208 Tags
Amber Amber List (moderate evidence)	TUBB4A	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 6, OMIM:612438 Dystonia 4, torsion, autosomal dominant, OMIM:128101 Tags
Amber Amber List (moderate evidence)	UQCRC1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Parkinsonism with polyneuropathy, OMIM:619279 Tags watchlist
Amber Amber List (moderate evidence)	VPS13C	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Parkinson disease 23, autosomal recessive, early onset, OMIM:616840 Tags
Red Red List (low evidence)	AAAS	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 Triple-A syndrome, MONDO:0009279 Tags
Red Red List (low evidence)	AARS	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Red Red List (low evidence)	ABCB7	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 London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Anemia, sideroblastic, with ataxia, Sideroblastic Anemia and Ataxia Tags
Red Red List (low evidence)	ABHD12	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Tags
Red Red List (low evidence)	ACTB	3 reviews 2 red	Unknown	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 Tags
Red Red List (low evidence)	ADAR	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Tags
Red Red List (low evidence)	ADCY5	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes dystonia Familial dyskinesia 606703 Dyskinesia, familial, with facial myokymia, 606703 Tags
Red Red List (low evidence)	AIMP1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 3, 260600 Tags
Red Red List (low evidence)	ALAS2	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 Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Tags
Red Red List (low evidence)	ALDH18A1	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	AMPD2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	ANO10	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Red Red List (low evidence)	ANO3	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia 24, 615034 familial form of cranio-cervical dystonia Tags
Red Red List (low evidence)	AP1S2	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 London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Red Red List (low evidence)	AP4B1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Red Red List (low evidence)	AP4E1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744 Hereditary spastic paraplegia 51, MONDO:0013401 Tags
Red Red List (low evidence)	AP4M1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 50, autosomal recessive Tags
Red Red List (low evidence)	AP4S1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes developmental delay seizures Spastic paraplegia 52, autosomal recessive Tags
Red Red List (low evidence)	APTX	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ataxia with Oculomotor Apraxia Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Dystonia Tags
Red Red List (low evidence)	AR	4 reviews 1 green 2 red	Other	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ARG1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Argininemia, OMIM:207800 Tags
Red Red List (low evidence)	ARL6IP1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Tags
Red Red List (low evidence)	ARSI	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Tags
Red Red List (low evidence)	ARX	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	ATCAY	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ataxia, cerebellar, Cayman type Cerebellar Ataxia, Cayman type Tags
Red Red List (low evidence)	ATL1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 3A, autosomal dominant, Spastic Paraplegia, Dominant Spastic paraplegia 3A, autosomal dominant Tags
Red Red List (low evidence)	ATM	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ataxia-telangiectasia, OMIM:208900 Tags
Red Red List (low evidence)	ATN1	4 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATP1A2	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia alternating hemiplegia of childhood 104290 familial basilar migraine 602481 migraine familial hemiplegic migraine type 2, 602481 Tags treatable
Red Red List (low evidence)	ATP8A2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Tags
Red Red List (low evidence)	ATXN1	4 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN10	4 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN2	4 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH 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 Red List (low evidence)	ATXN3	4 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Machado-Joseph disease, OMIM:109150 Susceptibility to Late-Onset Parkinson Disease Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN7	5 reviews 1 green 2 red	Other	Sources Expert Review Red London North GLH NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN8	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 8 608768 Tags currently-ngs-unreportable ensembl_ids_known_missing nucleotide-repeat-expansion
Red Red List (low evidence)	B4GALNT1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 26, autosomal recessive Tags
Red Red List (low evidence)	BCAP31	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 NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 Tags
Red Red List (low evidence)	BEAN1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 31 117210 Tags currently-ngs-unreportable nucleotide-repeat-expansion structural-variant
Red Red List (low evidence)	BSCL2	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Silver spastic paraplegia syndrome, OMIM:270685 Tags
Red Red List (low evidence)	C12orf65	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Red Red List (low evidence)	C9orf72	4 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	CA8	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Tags
Red Red List (low evidence)	CACNA1A	5 reviews 1 green 3 red	Other	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	CACNB4	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Episodic ataxia, type 5 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 EPISODIC ATAXIA, TYPE 5 Episodic Ataxia Tags treatable
Red Red List (low evidence)	CAMTA1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebellarataxia, nonprogressive, with mental retardation, 614756 Tags
Red Red List (low evidence)	CAPN1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 76 autosomal recessive 616907 Tags
Red Red List (low evidence)	CASK	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 London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Tags
Red Red List (low evidence)	CCT5	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia Sensory Neuropathy with Spastic Paraplegia Tags
Red Red List (low evidence)	CDK16	5 reviews 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Intellectual disability and spastic paraplegia Tags
Red Red List (low evidence)	CHMP1A	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Red Red List (low evidence)	CLP1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Pontocerebellar hypoplasia 10, 615803 Tags
Red Red List (low evidence)	COG5	6 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Congenital disorder of glycosylation, type IIi 613612 Tags
Red Red List (low evidence)	COQ8A	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Coenzyme Q10 deficiency, primary 4, 612016 Spinocerebellar Ataxia Type Tags
Red Red List (low evidence)	COX20	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Red Red List (low evidence)	CSTB	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	CWF19L1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Tags
Red Red List (low evidence)	CYP2U1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	DAB1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 37 615945 Tags currently-ngs-unreportable founder-effect nucleotide-repeat-expansion
Red Red List (low evidence)	DAO	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 Red List (low evidence)	DARS	6 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH 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 Red List (low evidence)	DCAF17	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Woodhouse-Sakati syndrome Tags
Red Red List (low evidence)	DDC	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Red Red List (low evidence)	DDHD1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 28, autosomal recessive Tags
Red Red List (low evidence)	DDHD2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	DLAT	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	DMXL2	5 reviews 5 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Sensorineural Hearing Loss ORPHA90636 OMIM:612186 Tags
Red Red List (low evidence)	DNAJC19	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 3-methylglutaconic aciduria, type V 610198 dilated cardiomyopathy with ataxia (DCMA) syndrome Tags
Red Red List (low evidence)	DRD2	3 reviews 2 red	Unknown	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Dystonia, myoclonic, 159900 Tags
Red Red List (low evidence)	DRD5	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes {Blepharospasm, primary benign}, 606798 Tags
Red Red List (low evidence)	DSTYK	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 23, 270750 Tags founder-effect
Red Red List (low evidence)	DYNC1H1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Charcot Marie Tooth, SMA, Intellectual disability Tags
Red Red List (low evidence)	EARS2	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	ELOVL5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 36 (#615957) Tags
Red Red List (low evidence)	ENTPD1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683 Tags
Red Red List (low evidence)	ERCC6	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	ERLIN1	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Hereditary spastic paraplegia Spastic paraplegia 62, 615681 Tags
Red Red List (low evidence)	ERLIN2	4 reviews 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes neurodegeneration hereditary spastic paraplegia Spastic paraplegia 18, autosomal recessive, 611225 Spastic paraplegia, autosomal dominant Tags
Red Red List (low evidence)	EXOSC3	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Red Red List (low evidence)	FA2H	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia fatty acid hydroxylase-associated neurodegeneration Spastic paraplegia 35, autosomal recessive Tags
Red Red List (low evidence)	FARS2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 Tags
Red Red List (low evidence)	FASTKD2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
Red Red List (low evidence)	FGF14	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 27 Tags
Red Red List (low evidence)	FIG4	7 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	FLVCR1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Posterior Column Ataxia with Retinitis Pigmentosa Ataxia, posterior column, with retinitis pigmentosa, Tags
Red Red List (low evidence)	FMR1	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 London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	FOLR1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Tags
Red Red List (low evidence)	FOXG1	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	FOXRED1	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	FXN	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	GAD1	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Cerebralpalsy,spasticquadriplegic,1,603513 Tags
Red Red List (low evidence)	GAMT	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	GBA2	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Red Red List (low evidence)	GJC2	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Spastic paraplegia 44, autosomal recessive Tags
Red Red List (low evidence)	GLRA1	4 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Red Red List (low evidence)	GLRB	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Hyperekplexia 2, 614619 Tags
Red Red List (low evidence)	GNAL	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes adult-onset cranio-cervical dystonia Dystonia 25, 615073 Tags watchlist
Red Red List (low evidence)	GNAO1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Neurodevelopmental disorder with involuntary movements, 617493 Tags mosaicism
Red Red List (low evidence)	GOSR2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Red Red List (low evidence)	GPAA1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Red Red List (low evidence)	GRID2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Red Red List (low evidence)	GRM1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 44, OMIM:617691 Tags
Red Red List (low evidence)	HACE1	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia psychomotor retardation seizure Spastic paraplegia and psychomotor retardation with or without seizures, 616756 Tags
Red Red List (low evidence)	HFE	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Tags
Red Red List (low evidence)	HPCA	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia 2, torsion, autosomal recessive, 224500 generalized dystonia with additional neurological features adolescence-onset segmental dystonia childhood-onset generalized dystonia Tags
Red Red List (low evidence)	HPRT1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Lesch-Nyhan syndrome, OMIM:300322 Tags
Red Red List (low evidence)	HSPD1	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 13, autosomal dominant, OMIM:605280 Tags
Red Red List (low evidence)	HTRA2	4 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinson Disease, Dominant Parkinson disease 13, 610297 3-methylglutaconic aciduria, type VIII 617248 Tags
Red Red List (low evidence)	HTT	3 reviews 1 red	Other	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Huntington disease, OMIM:143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	IBA57	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Red Red List (low evidence)	IPPK	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Early Onset Complex Disease Tags
Red Red List (low evidence)	ITPR1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 29 Spinocerebellar ataxia 15 Tags
Red Red List (low evidence)	JPH3	3 reviews 1 red	Other	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Huntington disease-like 2, OMIM:606438 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	KCNA1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes myokymia with periodic ataxia Episodic ataxia/myokymia syndrome, EPISODIC ATAXIA, TYPE 1 Tags treatable
Red Red List (low evidence)	KCNJ10	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome Tags
Red Red List (low evidence)	KCNK18	5 reviews 4 red	Unknown	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 Tags
Red Red List (low evidence)	KCNQ2	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Myokymia, 121200 Tags
Red Red List (low evidence)	KCNQ3	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Seizures, benign neonatal, type 2, 121201 Tags
Red Red List (low evidence)	KDM5C	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 list Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534 Tags
Red Red List (low evidence)	KIDINS220	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 Tags
Red Red List (low evidence)	KIF1A	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 30, autosomal dominant, OMIM:610357 Spastic paraplegia 30, autosomal recessive, OMIM:610357 NESCAV syndrome, OMIM:614255 Tags
Red Red List (low evidence)	KIF1C	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic ataxia 2, autosomal recessive, OMIM:611302 Tags
Red Red List (low evidence)	KLC4	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes spastic paraplegia progressive complicated spastic paraplegia Tags
Red Red List (low evidence)	KMT2B	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia 28, childhood-onset, OMIM:617284 early-onset dystonia Tags treatable
Red Red List (low evidence)	L1CAM	4 reviews 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia Tags
Red Red List (low evidence)	L2HGDH	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	MAG	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 75, autosomal recessive, OMIM:616680 Tags
Red Red List (low evidence)	MARS	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Tags new-gene-name
Red Red List (low evidence)	MAT1A	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	MCOLN1	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	MECR	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 Tags
Red Red List (low evidence)	MMACHC	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ataxia and hypogonadism Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Red Red List (low evidence)	MMADHC	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	MPV17	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	MR1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Dystonia Paroxysmal/Episodic dystonia Tags
Red Red List (low evidence)	MRE11	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ataxia-telangiectasia-like disorder Ataxia-Telangiectasia-Like Disorder Tags
Red Red List (low evidence)	MT-ATP6	4 reviews 4 red	MITOCHONDRIAL	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Neuropathy, Ataxia, and Retinitis Pigmentosa Tags
Red Red List (low evidence)	MT-ND6	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Leber Optic Atrophy And Dystonia Tags
Red Red List (low evidence)	MTPAP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Ataxia, spastic, 4, Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive Tags
Red Red List (low evidence)	MTTP	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Abetalipoproteinemia, 200100 Tags
Red Red List (low evidence)	MVK	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Mevalonic aciduria, OMIM:610377 Tags
Red Red List (low evidence)	NAGLU	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920) Tags
Red Red List (low evidence)	NDUFA12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Red Red List (low evidence)	NEFH	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes susceptibility to amyotrophic lateral sclerosis (ALS) Tags
Red Red List (low evidence)	NIPA1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 6, autosomal dominant Spasticparaplegia6,autosomaldominant,600363 Tags
Red Red List (low evidence)	NKX2-1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Chorea, hereditary benign 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Tags
Red Red List (low evidence)	NKX6-2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Red Red List (low evidence)	NOP56	2 reviews 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	NT5C2	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 Red List (low evidence)	OPA3	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Costeff syndrome 3-methylglutaconic aciduria, type III, 258501 Tags
Red Red List (low evidence)	OPHN1	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 London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Red Red List (low evidence)	PAX2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Ataxia,spastic2,autosomalrecessive(2) Tags
Red Red List (low evidence)	PAX6	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Red Red List (low evidence)	PCDH12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes microcephaly intellectual disability perithalamic hyperechogenicity hypothalamic abnormalities periventricular hyperechogenicity epilepsy midbrain abnormalities Tags founder-effect
Red Red List (low evidence)	PCLO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. Tags
Red Red List (low evidence)	PDHX	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	PDYN	4 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 23 Tags
Red Red List (low evidence)	PEX16	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Tags
Red Red List (low evidence)	PGAP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	PIK3R5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ataxia-oculomotor apraxia 3 Tags
Red Red List (low evidence)	PLP1	4 reviews 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Spastic paraplegia 2, X-linked Tags
Red Red List (low evidence)	PMPCA	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. Tags
Red Red List (low evidence)	PNKD	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 Paroxysmal nonkinesigenic dyskinesia, 118800 Tags
Red Red List (low evidence)	PNKP	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ataxia with oculomotor apraxia 4 (#616267) Tags
Red Red List (low evidence)	PNPLA6	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	PNPT1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	POLG	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Tags
Red Red List (low evidence)	POLR3A	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Autosomal Recessive Ataxia Tags
Red Red List (low evidence)	PPP2R2B	3 reviews 1 red	Other	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	PRICKLE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epilepsy, progressive myoclonic 1B, OMIM:612437 Tags
Red Red List (low evidence)	PRKCG	4 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 14 Tags
Red Red List (low evidence)	PRRT2	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	PTEN	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	PTS	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	QDPR	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	RAB39B	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 London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes early-onset parkinsonism and intellectual disability Waisman syndrome, OMIM:311510 Tags
Red Red List (low evidence)	RAB3GAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Martsolf syndrome 1, OMIM:212720 Tags
Red Red List (low evidence)	RARS2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes epilepsy Pontocerebellar hypoplasia Tags
Red Red List (low evidence)	REEP1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 31, autosomal dominant Tags
Red Red List (low evidence)	REEP2	5 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes ?Spastic paraplegia 72, autosomal recessive, 615625 ?Spastic paraplegia 72, autosomal dominant,615625 Tags
Red Red List (low evidence)	RELN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	RNASEH2A	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	RNASEH2B	0 reviews	Unknown	Sources Expert Review Red Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Dystonia (onset in infancy) Tags
Red Red List (low evidence)	RNASEH2C	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	RNF170	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ataxia, sensory, 1, autosomal dominant Tags
Red Red List (low evidence)	RTN2	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 12, autosomal dominant Tags
Red Red List (low evidence)	RUBCN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	SACS	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic ataxia, Charlevoix-Saguenay type Tags
Red Red List (low evidence)	SAMHD1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SAR1B	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Chylomicron retention disease 246700 Tags treatable
Red Red List (low evidence)	SCN1A	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes several epilepsy, convulsion and migraine disorders. familial hemiplegic migraine 3 Dravet syndrome Tags
Red Red List (low evidence)	SCN8A	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes epilepsy Cognitive impairment with or without cerebellar ataxia, 614306 paroxysmal kinesigenic dyskinesias Tags
Red Red List (low evidence)	SCN9A	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Erythermalgia, primary, 133020 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Congenital Indifference to Pain Paroxysmal Extreme Pain Disorder Dysosteosclerosis Insensitivity to pain, channelopathy-associated, 243000 Hereditary Sensory Neuropathy Paroxysmal extreme pain disorder, 167400 Febrile seizures, familial, 3B, 613863 Erythermalgia, Primary Tags
Red Red List (low evidence)	SCP2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, 613724 Tags
Red Red List (low evidence)	SDHAF1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SEPSECS	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Pontocerebellar hypoplasia type 2D (613811) Tags
Red Red List (low evidence)	SERAC1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Red Red List (low evidence)	SGCE	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Myoclonus dystonia syndrome Myoclonus-Dystonia maternally imprinted Dystonia-11, myoclonic, 159900 Tags
Red Red List (low evidence)	SIL1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Red Red List (low evidence)	SLC16A2	4 reviews 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 Tags
Red Red List (low evidence)	SLC19A3	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SLC1A3	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes EPISODIC ATAXIA, TYPE 6 Episodic ataxia, type 6, Tags
Red Red List (low evidence)	SLC1A4	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 Tags
Red Red List (low evidence)	SLC25A46	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Neuropathy, hereditary motor and sensory, type VIB 616505 Tags
Red Red List (low evidence)	SLC2A1	4 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	SLC33A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spastic paraplegia 42, autosomal dominant, Tags
Red Red List (low evidence)	SLC39A14	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Hypermanganesemia with dystonia 2 617013 Tags
Red Red List (low evidence)	SLC41A1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) Tags
Red Red List (low evidence)	SLC46A1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SLC52A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Riboflavin deficiency (condition resembling childhood-onset motor neurone disease) Tags
Red Red List (low evidence)	SLC52A2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Brown-Vialetto-Van Laere syndrome 2 Tags treatable
Red Red List (low evidence)	SLC52A3	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Fazio-Londe disease Brown-Vialetto-Van Laere syndrome 1 Tags
Red Red List (low evidence)	SLC6A3	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Parkinsonism-dystonia, infantile, 613135 {Nicotine dependence, protection against}, 188890 Tags
Red Red List (low evidence)	SLC6A5	4 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Hyperekplexia 3, 614618 Tags
Red Red List (low evidence)	SLC9A6	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 London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Red Red List (low evidence)	SNCAIP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Parkinson Disease, Dominant/Recessive Tags
Red Red List (low evidence)	SNX14	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Autosomal recessive spinocerebellar ataxia (#616354) Tags
Red Red List (low evidence)	SPART	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Troyer syndrome, OMIM:275900 Tags
Red Red List (low evidence)	SPR	4 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes paediatric form of dopa responsive dystonia Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Dopa-Responsive Dystonia Tags treatable
Red Red List (low evidence)	SPTBN2	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 Tags
Red Red List (low evidence)	SRD5A3	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Red Red List (low evidence)	SUCLA2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SUOX	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SYNE1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebellar Ataxia Spinocerebellar ataxia, autosomal recessive 8 Tags
Red Red List (low evidence)	SYT14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red Red List (low evidence)	TAF15	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 Red List (low evidence)	TBP	3 reviews 1 red	Other	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	TDP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive with axonal neuropathy Tags
Red Red List (low evidence)	TECPR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Tags
Red Red List (low evidence)	TET2	1 review	Unknown	Sources Literature Tags
Red Red List (low evidence)	TFG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 Tags
Red Red List (low evidence)	TGM6	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 35, 613908 Tags
Red Red List (low evidence)	TH	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Segawa syndrome DOPA-responsive dystonia infantile parkinsonism Segawa syndrome, recessive, 605407 paediatric form of dopa responsive dystonia Tags treatable
Red Red List (low evidence)	THAP1	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia Dystonia 6, torsion, 602629 DYT6 Tags
Red Red List (low evidence)	TIA1	2 reviews 1 red	Not set	Sources London North GLH NHS GMS Tags
Red Red List (low evidence)	TIMM8A	0 reviews	Unknown	Sources Expert Review Red Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome Tags
Red Red List (low evidence)	TOR1A	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441 Tags
Red Red List (low evidence)	TPK1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	TPP1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Tags
Red Red List (low evidence)	TSEN2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Pontocerebellar hypoplasia 2B, 612389 Tags
Red Red List (low evidence)	TSEN34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pontocerebellar hypoplasia 2C (612390) Tags
Red Red List (low evidence)	TSEN54	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Pontocerebellar hypoplasia 2A, 277470 Pontocerebellar hypoplasia 4, 225753 Tags
Red Red List (low evidence)	TTBK2	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia 11 Tags
Red Red List (low evidence)	TTPA	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Tags
Red Red List (low evidence)	TWNK	4 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar Ataxia, Recessive Ataxia Neuropathy Spectrum Disorders, Dominant Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Perrault syndrome 5, 616138 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Tags
Red Red List (low evidence)	UBR4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Episodic ataxia Tags
Red Red List (low evidence)	UCHL1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {?Parkinson disease 5, susceptibility to}, 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 Red List (low evidence)	UNC13A	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	USP8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	VAC14	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Striatonigral degeneration, childhood-onset 617054 Tags
Red Red List (low evidence)	VAMP1	5 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS South West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags founder-effect watchlist
Red Red List (low evidence)	VEGFA	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	VLDLR	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Red Red List (low evidence)	VPS13D	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 Tags
Red Red List (low evidence)	VPS37A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Dystonia Spastic paraplegia 53, autosomal recessive Tags
Red Red List (low evidence)	VPS53	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Pontocerebellar hypoplasia 2E (#615851) Tags
Red Red List (low evidence)	WASHC5	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Spastic paraplegia 8, autosomal dominant Tags
Red Red List (low evidence)	WDR45B	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 Tags
Red Red List (low evidence)	WDR48	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	WDR73	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature Galloway-Mowat syndrome 1, 251300 Tags
Red Red List (low evidence)	WDR81	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Tags
Red Red List (low evidence)	WFS1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Wolfram syndrome 1, 222300 Tags
Red Red List (low evidence)	WWOX	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Autosomal recessive spinocerebellar ataxia 12, 614322 Tags
Red Red List (low evidence)	XRCC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 Tags
Red Red List (low evidence)	YY1	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Gabriele-de Vries syndrome 617557 Tags
Red Red List (low evidence)	ZEB2	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ZFYVE26	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Yorkshire and North East 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 Red List (low evidence)	ZFYVE27	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spastic paraplegia 33, autosomal dominant Tags
Red Red List (low evidence)	ZNF592	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 5 Tags
No list No list	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed London North GLH NHS GMS Phenotypes 105831 Angelman syndrome Developmental delay, muscle weakness Mental retardation 176270 microcephaly Prader-Willi syndrome Tags curated_removed
No list No list	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region	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 No list	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Gain Region	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed London North GLH NHS GMS Phenotypes autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636 chromosome 15q11-q13 duplication syndrome Tags curated_removed
No list No list	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed London North GLH NHS GMS Phenotypes 105830 Angelman syndrome Developmental delay, muscle weakness Mental retardation 176270 microcephaly Prader-Willi syndrome Tags curated_removed
No list No list	SPTLC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Phenotypes Juvenile ALS Tags

Major version comments

2023-03-22 15:57 Catherine Snow (Genomics England) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 15:02 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-11 14:29 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.117) was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

2019-01-25 14:04 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
Checked panel against panel constituents. Ready to promote to version 1

Adult onset neurodegenerative disorder (Version 4.47)

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