Hereditary neuropathy (Version 1.477)

Description

Charcot-Marie-Tooth disease inclusion criteria
- Unexplained peripheral neuropathy affecting motor, sensory or autonomic nerves progressing over >2 years +/- additional neurological signs.

Charcot-Marie-Tooth disease exclusion criteria
- History of trauma
- Known acquired metabolic, vascular, inflammatory or immunological cause - History of alcohol excess
- Evidence of malignancy
- ENG/EMG suggest acquired pathology

Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Charcot-Marie-Tooth disease prior genetic testing genes
Testing for the chromosome 17p11.2 duplication is strongly recommended PRIOR TO RECRUITMENT as this may not be reliably detected by WGS using current analysis techniques; other tests below should be considered where this is in line with current local practice including:
- PMP22 point mutations, GJB1, MPZ, MFN2 (MFN2 axonal only)

Closing statement
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

26 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
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
BRIDGE consortium (NIHRBR-RD)

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

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

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

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
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
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Aleš Maver (Clinical Institute of Medical Genetics)

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

Group: Other
Workplace: Other
Zerin Hyder (Genomics England)

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

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

Group: Other
Workplace: Other

297 Entities

297 reviewed, 164 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 297 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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Tangier disease, 205400 Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly pain, paresthesias, anaesthesia Tags
Green Green List (high evidence)	ABHD12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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
Green Green List (high evidence)	AGTPBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Tags
Green Green List (high evidence)	AIFM1	6 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)	APTX	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ATAXIA WITH OCULOMOTOR APRAXIA 1 Tags
Green Green List (high evidence)	AR_CAG STR	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green NHS GMS Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green Green List (high evidence)	ARSA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Metachromatic leukodystrophy, 250100 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 Tags
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)	ATM	7 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Ataxia-telangiectasia, OMIM:208900 Hereditary Neuropathies 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)	ATXN10_ATTCT STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags STR
Green Green List (high evidence)	ATXN1_CAG STR	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green Green List (high evidence)	ATXN2_CAG STR	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 Tags STR
Green Green List (high evidence)	ATXN3_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Green Green List (high evidence)	B4GALNT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 SPG26 Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy Tags
Green Green List (high evidence)	BAG3	7 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green NHS GMS South West GLH UKGTN Phenotypes Myopathy, myofibrillar, 6 612954 Cardiomyopathy, dilated, 1HH, 613881 Tags
Green Green List (high evidence)	BCKDHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Maple syrup urine disease, type Ib, 248600 Maple Syrup Urine Disease Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath 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)	C12orf65	8 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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
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)	CD59	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy Tags
Green Green List (high evidence)	CHCHD10	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 Spinal muscular atrophy, Jokela type: 615048 Tags
Green Green List (high evidence)	CNTNAP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomyelinating neuropathy, congenital, 3, 618186 Tags
Green Green List (high evidence)	COA7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 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	3 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)	CTDP1	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS South West GLH UKGTN Phenotypes Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) 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 Cerebrotendinous xanthomatosis, 213700 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 SNCV described in a minority of patients Tags
Green Green List (high evidence)	DARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings 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 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Neuropathy, distal hereditary motor, type VIIB 607641 Perry syndrome, 168605 Tags
Green Green List (high evidence)	DEGS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 18, 618404 Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition Tags
Green Green List (high evidence)	DNAJB2	7 reviews 4 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)	DNAJC3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus 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 Myopathy, centronuclear, 160150 Myopathy, centronuclear, 160150 Lethal congenital contracture syndrome 5, 615368 Charcot Marie Tooth disease, axonal, type 2M, 606482 Charcot-Marie-Tooth, Intermediate Lethal congenital contracture syndrome 5, 615368 Charcot Marie Tooth disease, axonal, type 2M, 606482 Charcot-Marie-Tooth, Intermediate Tags
Green Green List (high evidence)	DNMT1	7 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 Neuropathy, hereditary sensory, type IE, 614116 Neuropathy, hereditary sensory, type IE, 614116 Dementia, Deafness, and Sensory Neuropathy Tags
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 Charcot Marie Tooth disease, axonal, type 20, 614228 Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity predominant, AD, 158600 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 disease, type 1D, 607678 Charcot-Marie-Tooth, Type 1 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)	ERCC6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cockayne syndrome, type B, 133540 Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities Tags
Green Green List (high evidence)	ERCC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cockayne syndrome, type A, 216400 Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities Tags
Green Green List (high evidence)	FAH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Tyrosinemia, type I, 276700 Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP Tags
Green Green List (high evidence)	FAM126A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV Tags new-gene-name
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, Type 4 Charcot Marie Tooth disease, type 4H, 609311 Charcot-Marie-Tooth, Type 4 Charcot Marie Tooth disease, type 4H, 609311 Tags
Green Green List (high evidence)	FIG4	9 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 Yunis Varon syndrome, 216340 Yunis Varon syndrome, 216340 Amyotrophic lateral sclerosis 11, 612577 Charcot Marie Tooth disease, type 4J, 611228 Amyotrophic lateral sclerosis 11, 612577 Tags
Green Green List (high evidence)	FLVCR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI Tags
Green Green List (high evidence)	FXN	8 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	FXN_GAA STR	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Green Green List (high evidence)	GALC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Krabbe disease, OMIM:245200 Tags
Green Green List (high evidence)	GAN	7 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 Giant axonal neuropathy-1, OMIM:256850 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 Neuropathy, distal hereditary motor, type V, 600794 Charcot Marie Tooth disease, type 2D, 601472 Tags new-gene-name
Green Green List (high evidence)	GBA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy 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 neuropathy, X linked dominant, 1, 302800 Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 Charcot-Marie-Tooth, X-linked Charcot-Marie-Tooth, X-linked Tags
Green Green List (high evidence)	GJC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spastic paraplegia 44, autosomal recessive, 613206 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 Tags
Green Green List (high evidence)	GLA	6 reviews 4 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 Green London North GLH NHS GMS Phenotypes Cardiomyopathy 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 Charcot Marie Tooth disease, dominant intermediate F, 615185 Tags
Green Green List (high evidence)	HADHA	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Trifunctional protein deficiency, 609015 Tags
Green Green List (high evidence)	HADHB	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Trifunctional protein deficiency, 609015 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 Tags new-gene-name
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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Porphyria, acute intermittent, 176000 AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy Tags
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 Neuropathy, distal hereditary motor, type IIB, 608634 Neuropathy, distal hereditary motor, type IIB, 608634 Charcot Marie Tooth disease, axonal, type 2F, 606595 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 Charcot Marie Tooth disease, axonal, type 2L, 608673 Neuropathy, distal hereditary motor, type IIA, 158590 Neuropathy, distal hereditary motor, type IIA, 158590 Tags
Green Green List (high evidence)	IARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy 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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 118220 Charcot-Marie-Tooth neuropathy type 1 distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop hereditary neuropathy Tags
Green Green List (high evidence)	17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss ISCA-37436-Loss Region	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 162500 Charcot-Marie-Tooth disease, type 1A muscle weakness repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop Neuropathy, recurrent, with pressure palsies mild to moderate peripheral neuropathy Tags
Green Green List (high evidence)	KCNA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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
Green Green List (high evidence)	KIF1A	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 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 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 Cardiomyopathy, dilated, 1A, 115200 Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001 Charcot Marie Tooth disease, type 2B1, 605588 Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670 Emery Dreifuss muscular dystrophy 2, AD, 181350 Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670 Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001 Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112 Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112 Lipodystrophy, familial partial, 2, 151660 Lipodystrophy, familial partial, 2, 151660 Emery Dreifuss muscular dystrophy 3, AR, 181350 Emery Dreifuss muscular dystrophy 3, AR, 181350 Emery Dreifuss muscular dystrophy 2, AD, 181350 Cardiomyopathy, dilated, 1A, 115200 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 Charcot Marie Toothe disease, axonal, type 2P, 614436 Tags
Green Green List (high evidence)	LYST	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Chediak-Higashi syndrome, 214500 Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy 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)	MMACHC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Onset infancy to adulthood 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
Green Green List (high evidence)	MME	7 reviews 3 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 616688 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 axonal Charcot-Marie-Tooth disease 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 Charcot Marie Tooth disease, type 2I, 607677 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2J, 607736 Roussy Levy syndrome, 180800 Charcot Marie Tooth disease, type 2J, 607736 Roussy Levy syndrome, 180800 Charcot Marie Tooth disease, type 2I, 607677 Charcot Marie Tooth disease, dominant intermediate D, 607791 Dejerine Sottas disease, 145900 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, dominant intermediate D, 607791 Neuropathy, congenital hypomyelinating, 605253 Neuropathy, congenital hypomyelinating, 605253 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)	MT-RNR1	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinsonism, deafness, and sensory-motor axonal neuropathy Tags gene-checked
Green Green List (high evidence)	MT-TL1	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green London North GLH NHS GMS Phenotypes Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy 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)	MTTP	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Abetalipoproteinemia, 200100 Tags
Green Green List (high evidence)	NAGA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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
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 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, type 2E, 607684 Charcot Marie Tooth disease, type 1F, 607734 Charcot Marie Tooth disease, type 1F, 607734 Charcot-Marie-Tooth disease, dominant intermediate G, 617882 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 Neuropathy, hereditary sensory and autonomic, type V, 608654 Hereditary Sensory and Autonomic Neuropathy, Type V Tags
Green Green List (high evidence)	NTRK1	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 Hereditary Neuropathies Insensitivity to pain, congenital, with anhidrosis Tags
Green Green List (high evidence)	OPA1	3 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)	OPA3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria, type III, 258501 Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction Tags
Green Green List (high evidence)	PDHA1	6 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green London North GLH NHS GMS Tags
Green Green List (high evidence)	PEX10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 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 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871 Tags
Green Green List (high evidence)	PEX7	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS UKGTN Phenotypes Hereditary Neuropathies Refsum disease Tags
Green Green List (high evidence)	PHYH	6 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS UKGTN Phenotypes Hereditary Neuropathies 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 Charcot Marie Tooth disease, recessive intermediate C, 615376 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Tags
Green Green List (high evidence)	PMM2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Ia, 212065 Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy 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	9 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, inflammatory demyelinating, 139393 Charcot Marie Tooth disease, type 1A, 118220 Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800 Dejerine Sottas disease, 145900 Dejerine Sottas disease, 145900 Neuropathy, recurrent, with pressure palsies, 162500 Neuropathy, recurrent, with pressure palsies, 162500 Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800 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 ?Charcot-Marie-Tooth disease, type 2B2 605589 Ataxia-oculomotor apraxia 4 OMIM:616267 Microcephaly, seizures, and developmental delay OMIM:613402 Tags
Green Green List (high evidence)	POLG	6 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS Phenotypes Cardiomyopathy sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA depletion syndrome 4B (MNGIE type) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Progressive external ophthalmoplegia, autosomal dominant 1 Progressive external ophthalmoplegia, autosomal recessive 1 Tags
Green Green List (high evidence)	POLR3A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain Tags
Green Green List (high evidence)	PPOX	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Porphyria variegata, 176200 Skin photosensitivity. Acute episodes similar to AIP Tags
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)	PRNP	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green London North GLH NHS GMS 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)	PTPN11	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Cardiomyopathy Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus 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 ?Neuronopathy, distal hereditary motor, type VB, 614751 Spastic paraplegia 31, autosomal dominant 610250 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 Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IIB, 613115 Neuropathy, hereditary sensory and autonomic, type IIB, 613115 Tags
Green Green List (high evidence)	SACS	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London North GLH NHS GMS Phenotypes Hereditary Neuropathies 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 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 Episodic pain syndrome, familial, 3, 615552 Neuropathy, hereditary sensory and autonomic, type VII, 615548 CONGENITAL INABILITY TO EXPERIENCE PAIN 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)	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
Green Green List (high evidence)	SH3TC2	9 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)	SLC12A6	9 reviews 8 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 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
Green Green List (high evidence)	SLC25A19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 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 Tags
Green Green List (high evidence)	SLC25A46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy Tags
Green Green List (high evidence)	SLC52A2	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS 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 dHMN Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease 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 gene-therapy-trial
Green Green List (high evidence)	SORD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912 sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055 Tags
Green Green List (high evidence)	SOX10	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green London North GLH NHS GMS South West GLH UKGTN Phenotypes Waardenburg syndrome, type 4C, 613266 PCWH syndrome, 609136 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease Tags
Green Green List (high evidence)	SPAST	6 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS UKGTN Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438 Tags
Green Green List (high evidence)	SPG11	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)	SPTBN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 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 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 Neuropathy, hereditary sensory and autonomic, type IC, 613640 Hereditary Sensory and Autonomic Neuropathy, Type IC Tags
Green Green List (high evidence)	SURF1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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
Green Green List (high evidence)	SYT2	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, 616040 Tags missense watchlist
Green Green List (high evidence)	TFG	7 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 4 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)	TRPA1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Episodic pain syndrome, familial, 1, 615040 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)	TTPA	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green 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
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 treatable
Green Green List (high evidence)	TUBB3	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green London North GLH NHS GMS Phenotypes Fibrosis of extraocular muscles, congenital, 3A CFEOM3A CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES Tags
Green Green List (high evidence)	TYMP	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) Tags
Green Green List (high evidence)	VPS13A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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
Green Green List (high evidence)	VRK1	3 reviews 3 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 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neuropathy, hereditary motor, with myopathic features OMIM:619216 neuropathy, hereditary motor, with myopathic features MONDO:0030977 Tags
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)	XK	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes McLeod syndrome with or without chronic granulomatous disease,OMIM:300842 McLeod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy Tags
Green Green List (high evidence)	XPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Xeroderma pigmentosum, group A, 278700 Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy 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 Charcot Marie Tooth disease, dominant intermediate C, 608323 Tags new-gene-name
Green Green List (high evidence)	ZFYVE26	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 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 Tags
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)	ARHGEF10	8 reviews 3 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)	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)	ATXN7_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
Amber Amber List (moderate evidence)	DRP2	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Amber London North GLH NHS GMS South West GLH 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)	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)	FMR1_CGG STR	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Amber NHS GMS Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR
Amber Amber List (moderate evidence)	JAG1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Vocal cord palsy Peripheral neuropathy Tags watchlist
Amber Amber List (moderate evidence)	MYH14	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 Tags
Amber Amber List (moderate evidence)	NOP56_GGCCTG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
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)	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)	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)	PPP2R2B_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
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 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 Spinocerebellar ataxia 14, 605361 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)	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)	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)	SPG7	6 reviews 1 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
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)	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)	VCP	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 2Y Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 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
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 Spastic paraplegia 43, autosomal recessive, 615043 Neurodegeneration with brain iron accumulation 4, 614298 SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs 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 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 Sensory Neuropathy with Spastic Paraplegia 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)	DGUOK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Phenotypes Portal hypertension, noncirrhotic, 617068 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy 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)	DHTKD1	5 reviews 4 red	Not set	Sources NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes Charcot Marie Tooth disease, axonal, type 2Q, 615025 2 aminoadipic 2 oxoadipic aciduria, 204750 2 aminoadipic 2 oxoadipic aciduria, 204750 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 Spastic paraplegia 23, 270750 Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild). 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 Spastic paraplegia 35, autosomal recessive, 612319 SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed 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 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 Charcot-Marie-Tooth, Intermediate (Dominant). Charcot-Marie-Tooth, Intermediate (Dominant) Deafness, autosomal recessive 89, 613916 Deafness, autosomal recessive 89, 613916 Charcot Marie Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Tags new-gene-name
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 Spastic paraplegia, optic atrophy, and neuropathy, 609541 SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy 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)	MAP1B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Giant Axonal Neuropathy-like phenotype, polyneuropathy 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	6 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 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)	PDK3	7 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red London North GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 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)	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)	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 dHMN Riboflavin deficiency Riboflavin deficiency 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)	TDP1	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red NHS GMS South West GLH UKGTN Phenotypes Hereditary Neuropathies 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)	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 1 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	MYO9B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes CMT2 Tags
No list No list	NOP56_GGCCTGTT STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags curated_removed STR

Hereditary neuropathy (Version 1.477)

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297 Entities

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