Hereditary neuropathy or pain disorder (Version 3.94)

The latest signed off version for the GMS is v3.24. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R78 Hereditary neuropathy or pain 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 'R78 Hereditary neuropathy or pain 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.

Panel Activity

33 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Evan Reid (University of Cambridge)

Group: GeCIP domain
Workplace: Research lab
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Mary Reilly (Institute of Neurology)

Group: GeCIP domain
Workplace: Other clinical service
Alexander Rossor (UCL Institute of Neurology)

Group: Other NHS organisation
Workplace: NHS clinical service
Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Group: GeCIP domain
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

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
Helen Brittain (Genomics England Curator)

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

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Michael Bonello (The Walton Centre NHS Foundation Trust)

Group: GeCIP domain
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

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

Group: Other
Workplace: Other
Natalie Forrester (SWGLH - Bristol Genetics)

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

Group: GeCIP domain
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

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

Group: Other
Workplace: Other
James Polke (North Thames GLH)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Lucy Jackson (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Lindsey Vialard (Central and South GLH)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Mafalda Gomes (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Joseph Shaw (North Thames Genomic Laboratory Hub)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Christopher Record (UCL Queen Square Institute of Neurology)

Group: Other NHS organisation
Workplace: NHS clinical service
Williams Kirsty (West Midlands Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab

315 Entities

315 reviewed, 114 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 315 Entitiess
Green Green List (high evidence)	AARS	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Green Green List (high evidence)	ABCA1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes pain, paresthesias, anaesthesia Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly Tangier disease, 205400 Tags
Green Green List (high evidence)	ACOX1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	AIFM1	8 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Cowchock syndrome, OMIM:310490 Combined oxidative phosphorylation deficiency 6, OMIM:300816 Tags
Green Green List (high evidence)	AR_CAG STR	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green NHS GMS Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green Green List (high evidence)	ATL1	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Neuropathy, hereditary sensory, type ID, 613708 Tags
Green Green List (high evidence)	ATP1A1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 Tags
Green Green List (high evidence)	ATP7A	8 reviews 6 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Hereditary Neuropathies Tags
Green Green List (high evidence)	BICD2	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 Tags
Green Green List (high evidence)	BSCL2	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Neuropathy, distal hereditary motor, type VC, OMIM:619112 Tags
Green Green List (high evidence)	C1orf194	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, intermediate or demyelinating Tags gene-checked new-gene-name
Green Green List (high evidence)	CHCHD10	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Spinal muscular atrophy, Jokela type: 615048 Tags
Green Green List (high evidence)	COX20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 Tags
Green Green List (high evidence)	COX6A1	8 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039 Tags
Green Green List (high evidence)	CPOX	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Coproporphyria, 121300 Harderoporphyria, 121300 Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP Tags
Green Green List (high evidence)	CYP27A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes SNCV described in a minority of patients Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	DCTN1	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Perry syndrome, 168605 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Neuropathy, distal hereditary motor, type VIIB 607641 Tags
Green Green List (high evidence)	DNAJB2	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Green Green List (high evidence)	DNM2	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, dominant intermediate B, 606482 Lethal congenital contracture syndrome 5, 615368 Charcot Marie Tooth disease, axonal, type 2M, 606482 Myopathy, centronuclear, 160150 Charcot-Marie-Tooth, Intermediate Tags
Green Green List (high evidence)	DNMT1	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes Dementia, Deafness, and Sensory Neuropathy Neuropathy, hereditary sensory, type IE, 614116 Tags
Green Green List (high evidence)	DRP2	8 reviews 4 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green London North GLH NHS GMS South West GLH Tags gene-checked
Green Green List (high evidence)	DST	6 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type VI ?Neuropathy, hereditary sensory and autonomic, type VI Tags
Green Green List (high evidence)	DYNC1H1	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity predominant, AD, 158600 Charcot Marie Tooth disease, axonal, type 20, 614228 Tags
Green Green List (high evidence)	EGR2	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth, Type 1 Charcot Marie Tooth disease, type 1D, 607678 Tags
Green Green List (high evidence)	ELP1	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Dysautonomia, familial, OMIM:223900 Tags
Green Green List (high evidence)	FBLN5	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764 Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895 Tags
Green Green List (high evidence)	FGD4	8 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, type 4H, 609311 Charcot-Marie-Tooth, Type 4 Tags
Green Green List (high evidence)	FIG4	10 reviews 7 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN 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 Yunis Varon syndrome OMIM:216340 Yunis-Varon syndrome MONDO:0008995 Tags
Green Green List (high evidence)	GARS	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Neuropathy, distal hereditary motor, type V, 600794 Charcot Marie Tooth disease, type 2D, 601472 Tags new-gene-name
Green Green List (high evidence)	GBF1	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483 Tags
Green Green List (high evidence)	GDAP1	8 reviews 6 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400 Tags
Green Green List (high evidence)	GJB1	8 reviews 6 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth, X-linked Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 Tags
Green Green List (high evidence)	GNB4	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes Charcot Marie Tooth disease, dominant intermediate F, 615185 Tags
Green Green List (high evidence)	GSN	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Amyloidosis, Finnish type, OMIM:105120 cranial neuropathy peripheral neuropathy cutis laxa cardiomyopathy, MONDO:0004994 arrhythmia Tags
Green Green List (high evidence)	HARS	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, axonal, type 2W, OMIM:616625 Tags new-gene-name
Green Green List (high evidence)	HEXA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tay-Sachs disease, OMIM:272800 Late-onset Tay-Sachs disease Tags
Green Green List (high evidence)	HEXB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green Green List (high evidence)	HINT1	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Tags
Green Green List (high evidence)	HK1	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285 Tags
Green Green List (high evidence)	HMBS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Porphyria, acute intermittent, OMIM:76000 Porphyria, acute intermittent, nonerythroid variant, OMIM:176000 Leukoencephalopathy, HP:0002352 hereditary peripheral neuropathy, MONDO:0020127 Tags Q1_24_MOI
Green Green List (high evidence)	HSPB1	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, axonal, type 2F, 606595 Neuropathy, distal hereditary motor, type IIB, 608634 Tags
Green Green List (high evidence)	HSPB8	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Neuropathy, distal hereditary motor, type IIA, 158590 Charcot Marie Tooth disease, axonal, type 2L, 608673 Tags
Green Green List (high evidence)	IGHMBP2	8 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, axonal, type 2S 616155 Neuronopathy, distal hereditary motor, type VI, 604320 Tags
Green Green List (high evidence)	INF2	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Charcot Marie Tooth disease, dominant intermediate E, 614455 Tags
Green Green List (high evidence)	17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain ISCA-37436-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss ISCA-37436-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	KIF1A	7 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory, type IIC, OMIM:614213 Spastic paraplegia 30, autosomal dominant, OMIM:610357 Spastic paraplegia 30, autosomal recessive, OMIM:610357 NESCAV syndrome, OMIM:614255 Tags
Green Green List (high evidence)	KIF5A	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS Phenotypes Hereditary Neuropathies Spastic paraplegia 10, autosomal dominant Tags
Green Green List (high evidence)	LITAF	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, type 1C, 601098 Tags
Green Green List (high evidence)	LMNA	8 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Emery Dreifuss muscular dystrophy 3, AR, 181350 Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001 Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112 Cardiomyopathy, dilated, 1A, 115200 Lipodystrophy, familial partial, 2, 151660 Emery Dreifuss muscular dystrophy 2, AD, 181350 Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670 Charcot Marie Tooth disease, type 2B1, 605588 Tags
Green Green List (high evidence)	LRSAM1	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes Charcot Marie Toothe disease, axonal, type 2P, 614436 Tags
Green Green List (high evidence)	MAG	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 75, autosomal recessive, OMIM:616680 Tags
Green Green List (high evidence)	MCM3AP	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green Green List (high evidence)	MFN2	8 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087 Hereditary motor and sensory neuropathy VIA, OMIM:601152 Tags
Green Green List (high evidence)	MME	9 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Other Phenotypes Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017 Tags adult-onset
Green Green List (high evidence)	MORC2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature London North GLH NHS GMS South West GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z Tags
Green Green List (high evidence)	MPV17	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Tags
Green Green List (high evidence)	MPZ	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Neuropathy, congenital hypomyelinating, 605253 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, dominant intermediate D, 607791 Roussy Levy syndrome, 180800 Charcot Marie Tooth disease, type 2J, 607736 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2I, 607677 Tags
Green Green List (high evidence)	MT-ATP6	5 reviews 3 green	MITOCHONDRIAL	Sources Expert Review Expert Review Green London North GLH NHS GMS Tags gene-checked
Green Green List (high evidence)	MTMR2	8 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 Tags
Green Green List (high evidence)	MYH14	7 reviews 4 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green London North GLH NHS GMS South West GLH Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 Tags
Green Green List (high evidence)	NDRG1	8 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, type 4D, 601455 Tags
Green Green List (high evidence)	NEFH	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 Tags
Green Green List (high evidence)	NEFL	8 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882 Charcot Marie Tooth disease, type 1F, 607734 Charcot Marie Tooth disease, type 2E, 607684 Tags
Green Green List (high evidence)	NGF	7 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Neuropathy, hereditary sensory and autonomic, type V, 608654 Hereditary Sensory and Autonomic Neuropathy, Type V Tags
Green Green List (high evidence)	NTRK1	9 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Hereditary Neuropathies Insensitivity to pain, congenital, with anhidrosis, OMIM:256800 Tags
Green Green List (high evidence)	OPA1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Optic atrophy plus syndrome, OMIM:125250 Behr syndrome, OMIM:210000 Tags
Green Green List (high evidence)	PDK3	10 reviews 4 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 Radboud University Medical Center, Nijmegen South West GLH Phenotypes ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 Tags
Green Green List (high evidence)	PIGB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 80, OMIM:618580 Tags
Green Green List (high evidence)	PLEKHG5	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Charcot Marie Tooth disease, recessive intermediate C, 615376 Tags
Green Green List (high evidence)	PMP2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 Tags
Green Green List (high evidence)	PMP22	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800 Neuropathy, recurrent, with pressure palsies, 162500 Charcot Marie Tooth disease, type 1A, 118220 Neuropathy, inflammatory demyelinating, 139393 Tags
Green Green List (high evidence)	PNKP	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy Microcephaly, seizures, and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Tags
Green Green List (high evidence)	POLR3B	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes POLR3B-related neurodevelopmental disorder Ataxia, spasticity, and demyelinating neuropathy Tags
Green Green List (high evidence)	PPOX	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Porphyria variegata, 176200 Skin photosensitivity. Acute episodes similar to AIP Tags Q3_23_MOI
Green Green List (high evidence)	PRDM12	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London North GLH NHS GMS Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 Tags
Green Green List (high evidence)	PRPS1	9 reviews 6 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070 Tags
Green Green List (high evidence)	PRX	8 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, type 4F, OMIM:614895 Dejerine-Sottas disease, OMIM:145900 Tags
Green Green List (high evidence)	RAB7A	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 Tags
Green Green List (high evidence)	REEP1	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Spastic paraplegia 31, autosomal dominant 610250 ?Neuronopathy, distal hereditary motor, type VB, 614751 Cardiomyopathy Tags
Green Green List (high evidence)	RETREG1	8 reviews 5 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IIB, 613115 Tags
Green Green List (high evidence)	SBF1	8 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 Tags
Green Green List (high evidence)	SBF2	8 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, type 4B2, 604563 Tags
Green Green List (high evidence)	SCN10A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Episodic pain syndrome, familial, 2, 615551 Tags
Green Green List (high evidence)	SCN11A	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes CONGENITAL INABILITY TO EXPERIENCE PAIN Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552 Tags
Green Green List (high evidence)	SCN9A	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Hereditary Neuropathies Tags
Green Green List (high evidence)	SCO2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Charcot-Marie-Tooth disease type 4, MONDO:0018995 Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377 Tags
Green Green List (high evidence)	SEPT9	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Amyotrophy, hereditary neuralgic Neuralgic amyotrophy Tags new-gene-name
Green Green List (high evidence)	SETX	8 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Tags
Green Green List (high evidence)	SH3TC2	10 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, type 4C, OMIM:601596 Mononeuropathy of the median nerve, mild, OMIM:613353 Tags
Green Green List (high evidence)	SIGMAR1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London North GLH NHS GMS Tags
Green Green List (high evidence)	SLC25A46	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505 Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260 Tags
Green Green List (high evidence)	SLC52A2	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867 Hereditary sensory and autonomic neuropathy, MONDO:0015364 Tags treatable
Green Green List (high evidence)	SLC52A3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Fazio-Londe disease dHMN Brown-Vialetto-Van Laere syndrome 1 Tags
Green Green List (high evidence)	SLC5A6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 Tags
Green Green List (high evidence)	SLC5A7	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Neuronopathy, distal hereditary motor, type VIIA Tags
Green Green List (high evidence)	SMN1	7 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Spinal muscular atrophy-3, OMIM:253400 Spinal muscular atrophy-4, OMIM:271150 Spinal muscular atrophy-2, OMIM:253550 Spinal muscular atrophy-1, OMIM:253300 Tags
Green Green List (high evidence)	SORD	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912 sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055 Tags
Green Green List (high evidence)	SPG11	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS Phenotypes Hereditary Neuropathies axonal Charcot-Marie-Tooth disease type 2X Tags
Green Green List (high evidence)	SPTLC1	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IA, 162400 Tags
Green Green List (high evidence)	SPTLC2	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type IC Neuropathy, hereditary sensory and autonomic, type IC, 613640 Tags
Green Green List (high evidence)	TECPR2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031 Tags
Green Green List (high evidence)	TFG	8 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484 Spastic paraplegia 57, autosomal recessive, OMIM:615658 Tags
Green Green List (high evidence)	TRIM2	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Charcot-Marie-Tooth disease, type 2R, 615490 Tags
Green Green List (high evidence)	TRPV4	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Hereditary motor and sensory neuropathy, type IIc, 606071 Tags
Green Green List (high evidence)	TTR	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS UKGTN Phenotypes Amyloidosis, hereditary, transthyretin-related, 105210 FAP Cardiomyopathy Tags
Green Green List (high evidence)	UBA1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830 Tags
Green Green List (high evidence)	VAPB	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980 Amyotrophic lateral sclerosis 8, OMIM:608627 Tags
Green Green List (high evidence)	VCP	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 2Y, OMIM:616687 Tags
Green Green List (high evidence)	VRK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH Phenotypes Distal hereditary motor neuropathy Tags
Green Green List (high evidence)	VWA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Tags STR
Green Green List (high evidence)	WARS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neuronopathy, distal hereditary motor, type IX, 617721 Tags new-gene-name
Green Green List (high evidence)	WNK1	7 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 Tags
Green Green List (high evidence)	YARS	9 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, dominant intermediate C, 608323 Tags new-gene-name
Amber Amber List (moderate evidence)	ABHD12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy,612674 Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia Tags
Amber Amber List (moderate evidence)	AGTPBP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	AGXT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Hyperoxaluria, primary, type 1, 259900 Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing) Tags
Amber Amber List (moderate evidence)	AP1S1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes MEDNIK syndrome, 609313 Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma Tags
Amber Amber List (moderate evidence)	APOA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy Tags
Amber Amber List (moderate evidence)	APTX	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies ATAXIA WITH OCULOMOTOR APRAXIA 1 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Tags
Amber Amber List (moderate evidence)	ARHGEF10	10 reviews 4 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH UKGTN Phenotypes ?Slowed nerve conduction velocity, AD, 608236 Tags
Amber Amber List (moderate evidence)	ARSA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Severe late infantile form with mental retardation and severe course. Regression before 30 months adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy Metachromatic leukodystrophy, 250100 Tags
Amber Amber List (moderate evidence)	ATL3	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber London North GLH NHS GMS South West GLH Tags
Amber Amber List (moderate evidence)	ATM	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Ataxia-telangiectasia, OMIM:208900 Hereditary Neuropathies Tags
Amber Amber List (moderate evidence)	B4GALNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy Spastic paraplegia 26, autosomal recessive, 609195 SPG26 Tags
Amber Amber List (moderate evidence)	BAG3	7 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS South West GLH UKGTN Phenotypes Myopathy, myofibrillar, 6 612954 Cardiomyopathy, dilated, 1HH, 613881 Tags
Amber Amber List (moderate evidence)	BCKDHB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Maple syrup urine disease, type Ib, 248600 Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath Maple Syrup Urine Disease Tags
Amber Amber List (moderate evidence)	C12orf65	8 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Amber Amber List (moderate evidence)	CADM3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease, axonal, type 2FF, OMIM:619519 Tags Q2_24_NHS_review Q2_24_promote_green watchlist
Amber Amber List (moderate evidence)	CD59	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 Tags
Amber Amber List (moderate evidence)	CNTNAP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Hypomyelinating neuropathy, congenital, 3, 618186 Tags
Amber Amber List (moderate evidence)	COA7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 Tags
Amber Amber List (moderate evidence)	COQ7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	CTDP1	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber NHS GMS South West GLH UKGTN Phenotypes Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) Tags
Amber Amber List (moderate evidence)	DARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings Tags
Amber Amber List (moderate evidence)	DEGS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition Leukodystrophy, hypomyelinating, 18, 618404 Tags
Amber Amber List (moderate evidence)	DGUOK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy Tags
Amber Amber List (moderate evidence)	DHTKD1	7 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	DHX9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Adult-onset axonal neuropathy Charcot-Marie-Tooth disease, MONDO:0015626 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	DNAJC3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	EMILIN1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal dominant 10, OMIM:620080 Tags
Amber Amber List (moderate evidence)	ERCC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities Cockayne syndrome, type B, 133540 Tags
Amber Amber List (moderate evidence)	ERCC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities Cockayne syndrome, type A, 216400 Tags
Amber Amber List (moderate evidence)	ETFDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Glutaric acidemia IIC, 231680 Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive Tags
Amber Amber List (moderate evidence)	FAH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP Tyrosinemia, type I, 276700 Tags
Amber Amber List (moderate evidence)	FAM126A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV Leukodystrophy, hypomyelinating, 5, 610532 Tags new-gene-name
Amber Amber List (moderate evidence)	FBXO38	7 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Neuronopathy, distal hereditary motor, type IID, 615575 Tags
Amber Amber List (moderate evidence)	FLVCR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI Tags
Amber Amber List (moderate evidence)	FXN	8 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Amber Amber List (moderate evidence)	GALC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Krabbe disease, OMIM:245200 Tags
Amber Amber List (moderate evidence)	GAN	9 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber London North GLH NHS GMS South West GLH UKGTN Phenotypes Giant axonal neuropathy-1, OMIM:256850 Tags Q2_24_NHS_review Q2_24_promote_green
Amber Amber List (moderate evidence)	GBA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy Spastic paraplegia 46, autosomal recessive, 614409 Tags
Amber Amber List (moderate evidence)	GJC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 2, 608804 Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy Spastic paraplegia 44, autosomal recessive, 613206 Tags
Amber Amber List (moderate evidence)	GLA	6 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 Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS Phenotypes Cardiomyopathy Tags
Amber Amber List (moderate evidence)	HADHA	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Trifunctional protein deficiency, 609015 Tags
Amber Amber List (moderate evidence)	HADHB	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Trifunctional protein deficiency, 609015 Tags
Amber Amber List (moderate evidence)	IARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 Tags
Amber Amber List (moderate evidence)	ITPR3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	JAG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Vocal cord palsy Peripheral neuropathy Tags watchlist
Amber Amber List (moderate evidence)	KCNA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Epileptic encephalopathy, early infantile, 32, 616366 Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family Tags
Amber Amber List (moderate evidence)	LYST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Chediak-Higashi syndrome, 214500 Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy Tags
Amber Amber List (moderate evidence)	MMACHC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Onset infancy to adulthood Methylmalonic aciduria and homocystinuria, cblC type, 277400 thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12 Tags
Amber Amber List (moderate evidence)	MT-RNR1	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Parkinsonism, deafness, and sensory-motor axonal neuropathy Tags
Amber Amber List (moderate evidence)	MT-TL1	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy Tags
Amber Amber List (moderate evidence)	MTTP	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Abetalipoproteinemia, 200100 Tags
Amber Amber List (moderate evidence)	NAGA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Kanzaki disease, 609242 Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI Tags
Amber Amber List (moderate evidence)	NEMF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotonia Axonal neuropathy Ataxia Abnormal brain imaging Global developmental delay Intellectual disability Kyphosis Scoliosis Tremor Respiratory distress Tags for-review to_be_confirmed_NHSE watchlist
Amber Amber List (moderate evidence)	NUDT2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Sensorimotor polyneuropathy Muscular hypotonia Intellectual disability no OMIM number Tags founder-effect watchlist
Amber Amber List (moderate evidence)	OPA3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria, type III, 258501 Tags
Amber Amber List (moderate evidence)	PDHA1	6 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber London North GLH NHS GMS Tags
Amber Amber List (moderate evidence)	PDXK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	PDYN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Spinocerebellar ataxia 23, 610245 Cerebellar ataxia, sensory-motor axonal neuropathy Tags
Amber Amber List (moderate evidence)	PEX10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described Peroxisome biogenesis disorder 6B, 614871 Tags
Amber Amber List (moderate evidence)	PEX7	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS UKGTN Phenotypes Hereditary Neuropathies Refsum disease Tags
Amber Amber List (moderate evidence)	PHYH	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS UKGTN Phenotypes Hereditary Neuropathies Tags
Amber Amber List (moderate evidence)	PLP1	6 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Amber Amber List (moderate evidence)	PMM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy Congenital disorder of glycosylation, type Ia, 212065 Tags
Amber Amber List (moderate evidence)	PNPLA6	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Childhood onset of slowly progressive spastic paraplegia progressive distal motor neuropathy beginning in early through late adolescence Tags
Amber Amber List (moderate evidence)	POLG	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber London North GLH NHS GMS Phenotypes sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) Mitochondrial DNA depletion syndrome 4A (Alpers type) Cardiomyopathy Progressive external ophthalmoplegia, autosomal recessive 1 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Progressive external ophthalmoplegia, autosomal dominant 1 Mitochondrial DNA depletion syndrome 4B (MNGIE type) Tags
Amber Amber List (moderate evidence)	POLR3A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications Tags
Amber Amber List (moderate evidence)	PRKCG	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Spinocerebellar ataxia 14, 605361 Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome Tags
Amber Amber List (moderate evidence)	PSMC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354 Tags
Amber Amber List (moderate evidence)	PTEN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Cowden syndrome 1, 158350 multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas Tags
Amber Amber List (moderate evidence)	PTPN11	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Cardiomyopathy Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus Tags
Amber Amber List (moderate evidence)	PTRH2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy Tags
Amber Amber List (moderate evidence)	RTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes distal hereditary motor neuropathy, MONDO:0018894 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	SACS	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber London North GLH NHS GMS Phenotypes Hereditary Neuropathies Tags
Amber Amber List (moderate evidence)	SARS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes hereditary peripheral neuropathy, MONDO:0020127 Tags new-gene-name Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	SCARB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure) Tags
Amber Amber List (moderate evidence)	SCYL1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 21, 616719 Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Amber Amber List (moderate evidence)	SLC12A6	10 reviews 8 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS South West GLH UKGTN Phenotypes Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068 Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000 Tags for-review Q4_23_NHS_review Q4_23_promote_green to_be_confirmed_NHSE
Amber Amber List (moderate evidence)	SLC25A19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 Tags
Amber Amber List (moderate evidence)	SOX10	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH UKGTN Phenotypes Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 Waardenburg syndrome, type 4C, 613266 PCWH syndrome, 609136 Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease Tags
Amber Amber List (moderate evidence)	SPAST	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS UKGTN Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438 Tags
Amber Amber List (moderate evidence)	SPG7	7 reviews 3 green 2 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	SPTAN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477 developmental and epileptic encephalopathy, 5, MONDO:0013277 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	SPTBN4	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Tags for-review to_be_confirmed_NHSE
Amber Amber List (moderate evidence)	SUCLA2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Amber Amber List (moderate evidence)	SURF1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Leigh syndrome, due to COX IV deficiency, 256000 Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV Tags
Amber Amber List (moderate evidence)	SYT2	9 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TDP1	9 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber NHS GMS South West GLH UKGTN Phenotypes ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 Tags founder-effect
Amber Amber List (moderate evidence)	TRPA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Episodic pain syndrome, familial, 1, 615040 Tags
Amber Amber List (moderate evidence)	TTPA	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa Tags
Amber Amber List (moderate evidence)	TUBB3	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber London North GLH NHS GMS Phenotypes CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES CFEOM3A Fibrosis of extraocular muscles, congenital, 3A Tags
Amber Amber List (moderate evidence)	TWNK	6 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH UKGTN Phenotypes Hereditary Neuropathies Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy Tags
Amber Amber List (moderate evidence)	TYMP	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber London North GLH NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) Tags
Amber Amber List (moderate evidence)	VPS13A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Choreoacanthocytosis, 200150 Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK Tags
Amber Amber List (moderate evidence)	XK	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy McLeod syndrome with or without chronic granulomatous disease, 300842 Tags
Amber Amber List (moderate evidence)	XPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy Xeroderma pigmentosum, group A, 278700 Tags
Amber Amber List (moderate evidence)	XRCC1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 Tags
Amber Amber List (moderate evidence)	ZFYVE26	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy Spastic paraplegia 15, autosomal recessive, 270700 Tags
Red Red List (low evidence)	ABCC9	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	ACTC1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	ACTN2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	ALDH3A2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	ANKRD1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	ARL6IP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes Spastic paraplegia 61, autosomal recessive, 615685 Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy Tags
Red Red List (low evidence)	BRAF	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	C19orf12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs Spastic paraplegia 43, autosomal recessive, 615043 Neurodegeneration with brain iron accumulation 4, 614298 Tags
Red Red List (low evidence)	CACNB4	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	CASQ2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	CAV3	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	CCT5	7 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Sensory Neuropathy with Spastic Paraplegia Neuropathy, hereditary sensory, with spastic paraplegia, 256840 Tags
Red Red List (low evidence)	CLTCL1	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	COQ8A	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	CRYAB	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	CSRP3	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	DCAF8	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS South West GLH Phenotypes ?Giant axonal neuropathy 2, autosomal dominant, 610100 Tags
Red Red List (low evidence)	DES	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	DHH	5 reviews 1 red	Not set	Sources NHS GMS South West GLH UKGTN Tags
Red Red List (low evidence)	DMD	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags Skewed X-inactivation
Red Red List (low evidence)	DSC2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	DSG2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	DSP	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	DSTYK	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild). Spastic paraplegia 23, 270750 Tags
Red Red List (low evidence)	DTNA	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	EMD	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	ERBB3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes Lethal congenital contractural syndrome 2, 607598 Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder Tags
Red Red List (low evidence)	FA2H	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed Spastic paraplegia 35, autosomal recessive, 612319 Tags
Red Red List (low evidence)	FGF14	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	FKTN	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	GAA	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	GATAD1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	GLE1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes Lethal congenital contracture syndrome 1, 253310 Congenital arthrogryposis with anterior horn cell disease, 611890 Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death Tags
Red Red List (low evidence)	HOXD10	6 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, foot deformity of, 192950 Tags
Red Red List (low evidence)	HRAS	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	HSPB3	7 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red London North GLH NHS GMS South West GLH UKGTN Phenotypes ?Neuronopathy, distal hereditary motor, type IIC, 613376 Tags
Red Red List (low evidence)	ITPR1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	JPH2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	JUP	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	KARS	7 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Deafness, autosomal recessive 89, 613916 Charcot-Marie-Tooth, Intermediate (Dominant) Charcot-Marie-Tooth, Intermediate (Dominant). Charcot Marie Tooth disease, recessive intermediate, B, 613641 Tags
Red Red List (low evidence)	KCNA1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	KCNC3	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	KIF1B	7 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, type 2A1, 118210 Tags
Red Red List (low evidence)	KLC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy Spastic paraplegia, optic atrophy, and neuropathy, 609541 Tags
Red Red List (low evidence)	KRAS	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	L1CAM	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	LAMA4	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	LAMP2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	LAS1L	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 Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	LDB3	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MAP2K1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MAP2K2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MARS	7 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red London North GLH NHS GMS South West GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 Tags new-gene-name
Red Red List (low evidence)	MED25	7 reviews 2 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Charcot Marie Tooth disease, type 2B2, 605589 Tags
Red Red List (low evidence)	MRE11	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	MYBPC3	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MYH6	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MYH7	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MYL2	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MYL3	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MYOZ2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	MYPN	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	NAGLU	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS South West GLH Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 Tags
Red Red List (low evidence)	NEBL	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	NEXN	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	NIPA1	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Spastic paraplegia 6, autosomal dominant Tags
Red Red List (low evidence)	NRAS	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	PCYT2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 82, autosomal recessive, OMIM:618770 axonal neuropathy, MONDO:0004183 Tags
Red Red List (low evidence)	PDLIM3	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	PKP2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	PLN	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	PRKAG2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	PRNP	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red London North GLH NHS GMS Tags
Red Red List (low evidence)	RAF1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	RBM20	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	RFC1	6 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720 Tags STR
Red Red List (low evidence)	RIT1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	RYR2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	SCN5A	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	SCP2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, 613724 Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI Tags
Red Red List (low evidence)	SELENOI	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals Tags
Red Red List (low evidence)	SGCD	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	SIL1	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	SLC1A3	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	SLC52A1	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red London North GLH NHS GMS South West GLH Phenotypes Riboflavin deficiency dHMN Tags
Red Red List (low evidence)	SOS1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	SPART	5 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	SPG21	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	SPTBN2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	TAZ	6 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags new-gene-name
Red Red List (low evidence)	TCAP	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	TMEM43	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	TNNC1	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	TNNI3	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	TNNT2	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	TPM1	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	TTBK2	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	TTN	5 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	UBA5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Hypomyelinating neuropathy Tags
Red Red List (low evidence)	VCL	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	WASHC5	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
Red Red List (low evidence)	ZFYVE27	5 reviews 1 red	Not set	Sources Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies Tags
No list No list	C1orf94	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Removed Phenotypes Intermediate Charcot-Marie-Tooth disease Tags curated_removed
No list No list	MT-ND6	1 review 1 green	MITOCHONDRIAL	Sources Literature Phenotypes LHON peripheral neuropathy Tags

Major version comments

2023-03-22 14:37 Catherine Snow (Genomics England) 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

2022-11-30 13:37 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
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 (2.0) following this.

2019-12-13 14:04 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.107) was signed off under NHS Genomic Medicine Service governance on (13/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Hereditary neuropathy or pain disorder (Version 3.94)

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