Description
This panel is used for clinical indication 'R78 Hereditary neuropathy or pain disorder' in the NHS Genomic Medicine Service. 

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R78 Hereditary neuropathy or pain disorder'.  

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

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

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

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

32 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Tracy Lester (Genetics laboratory, Oxford UK)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Evan Reid (University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Ian Berry (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Mary Reilly (Institute of Neurology)

    Group: GeCIP domain
    Workplace: Other clinical service

  • Alexander Rossor (UCL Institute of Neurology)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Rita Horvath (Institute of Genetic Medicine, Newcastle University)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Michael Bonello (The Walton Centre NHS Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Natalie Forrester (SWGLH - Bristol Genetics)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Nick Beauchamp (Sheffield Diagnostic Genetics Service)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • James Polke (North Thames GLH)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Lucy Jackson (NHS)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Lindsey Vialard (Central and South GLH)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Mafalda Gomes (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Joseph Shaw (North Thames Genomic Laboratory Hub)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Christopher Record (UCL Queen Square Institute of Neurology)

    Group: Other NHS organisation
    Workplace: NHS clinical service

313 Entities

313 reviewed, 114 green

List Entity Reviews Mode of inheritance Details
313 Entitiess
Green Green List (high evidence)
AARS
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
  • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
  • new-gene-name
Green Green List (high evidence)
ABCA1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • pain, paresthesias, anaesthesia
  • Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly
  • Tangier disease, 205400
Tags
Green Green List (high evidence)
ACOX1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Mitchell syndrome, MIM# 618960
Tags
Green Green List (high evidence)
AIFM1
8 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cowchock syndrome, OMIM:310490
  • Combined oxidative phosphorylation deficiency 6, OMIM:300816
Tags
Green Green List (high evidence)
AR_CAG
STR
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
  • STR
Green Green List (high evidence)
ATL1
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory, type ID, 613708
Tags
Green Green List (high evidence)
ATP1A1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Tags
Green Green List (high evidence)
ATP7A
8 reviews
6 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
Tags
Green Green List (high evidence)
BICD2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Tags
Green Green List (high evidence)
BSCL2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, distal hereditary motor, type VC, OMIM:619112
Tags
Green Green List (high evidence)
C1orf194
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, intermediate or demyelinating
Tags
  • gene-checked
  • new-gene-name
Green Green List (high evidence)
CHCHD10
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinal muscular atrophy, Jokela type: 615048
Tags
Green Green List (high evidence)
COX20
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
Tags
Green Green List (high evidence)
COX6A1
8 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Charcot Marie Tooth disease, recessive intermediate D, 616039
Tags
Green Green List (high evidence)
CPOX
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Coproporphyria, 121300
  • Harderoporphyria, 121300
  • Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Tags
Green Green List (high evidence)
CYP27A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • SNCV described in a minority of patients
  • Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
DCTN1
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Perry syndrome, 168605
  • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
  • Neuropathy, distal hereditary motor, type VIIB 607641
Tags
Green Green List (high evidence)
DNAJB2
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Green Green List (high evidence)
DNM2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate B, 606482
  • Lethal congenital contracture syndrome 5, 615368
  • Charcot Marie Tooth disease, axonal, type 2M, 606482
  • Myopathy, centronuclear, 160150
  • Charcot-Marie-Tooth, Intermediate
Tags
Green Green List (high evidence)
DNMT1
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Dementia, Deafness, and Sensory Neuropathy
  • Neuropathy, hereditary sensory, type IE, 614116
Tags
Green Green List (high evidence)
DRP2
8 reviews
4 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Tags
  • gene-checked
Green Green List (high evidence)
DST
6 reviews
3 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type VI
  • ?Neuropathy, hereditary sensory and autonomic, type VI
Tags
Green Green List (high evidence)
DYNC1H1
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 13, 614563
  • Spinal muscular atrophy, lower extremity predominant, AD, 158600
  • Charcot Marie Tooth disease, axonal, type 20, 614228
Tags
Green Green List (high evidence)
EGR2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth, Type 1
  • Charcot Marie Tooth disease, type 1D, 607678
Tags
Green Green List (high evidence)
ELP1
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Dysautonomia, familial, OMIM:223900
Tags
Green Green List (high evidence)
FBLN5
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764
  • Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
Tags
Green Green List (high evidence)
FGD4
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 4H, 609311
  • Charcot-Marie-Tooth, Type 4
Tags
Green Green List (high evidence)
FIG4
10 reviews
7 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Amyotrophic lateral sclerosis 11 OMIM:612577
  • amyotrophic lateral sclerosis type 11 MONDO:0012945
  • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
  • Charcot-Marie-Tooth disease type 4J MONDO:0012640
  • Yunis Varon syndrome OMIM:216340
  • Yunis-Varon syndrome MONDO:0008995
Tags
Green Green List (high evidence)
GARS
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, distal hereditary motor, type V, 600794
  • Charcot Marie Tooth disease, type 2D, 601472
Tags
  • new-gene-name
Green Green List (high evidence)
GBF1
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483
Tags
Green Green List (high evidence)
GDAP1
8 reviews
6 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706
  • Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340
  • Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Tags
Green Green List (high evidence)
GJB1
8 reviews
6 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth, X-linked
  • Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
Tags
Green Green List (high evidence)
GNB4
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate F, 615185
Tags
Green Green List (high evidence)
GSN
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Amyloidosis, Finnish type, OMIM:105120
  • cranial neuropathy
  • peripheral neuropathy
  • cutis laxa
  • cardiomyopathy, MONDO:0004994
  • arrhythmia
Tags
Green Green List (high evidence)
HARS
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2W, OMIM:616625
Tags
  • new-gene-name
Green Green List (high evidence)
HEXA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tay-Sachs disease, OMIM:272800
  • Late-onset Tay-Sachs disease
Tags
Green Green List (high evidence)
HEXB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Tags
Green Green List (high evidence)
HINT1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
HK1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285
Tags
Green Green List (high evidence)
HMBS
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Porphyria, acute intermittent, OMIM:76000
  • Porphyria, acute intermittent, nonerythroid variant, OMIM:176000
  • Leukoencephalopathy, HP:0002352
  • hereditary peripheral neuropathy, MONDO:0020127
Tags
  • Q1_24_MOI
Green Green List (high evidence)
HSPB1
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2F, 606595
  • Neuropathy, distal hereditary motor, type IIB, 608634
Tags
Green Green List (high evidence)
HSPB8
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, distal hereditary motor, type IIA, 158590
  • Charcot Marie Tooth disease, axonal, type 2L, 608673
Tags
Green Green List (high evidence)
IGHMBP2
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2S 616155
  • Neuronopathy, distal hereditary motor, type VI, 604320
Tags
Green Green List (high evidence)
INF2
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate E, 614455
Tags
Green Green List (high evidence)
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain
ISCA-37436-Gain
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Tags
Green Green List (high evidence)
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
ISCA-37436-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Tags
Green Green List (high evidence)
KIF1A
7 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory, type IIC, OMIM:614213
  • Spastic paraplegia 30, autosomal dominant, OMIM:610357
  • Spastic paraplegia 30, autosomal recessive, OMIM:610357
  • NESCAV syndrome, OMIM:614255
Tags
Green Green List (high evidence)
KIF5A
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary Neuropathies
  • Spastic paraplegia 10, autosomal dominant
Tags
Green Green List (high evidence)
LITAF
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 1C, 601098
Tags
Green Green List (high evidence)
LMNA
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Emery Dreifuss muscular dystrophy 3, AR, 181350
  • Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
  • Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
  • Cardiomyopathy, dilated, 1A, 115200
  • Lipodystrophy, familial partial, 2, 151660
  • Emery Dreifuss muscular dystrophy 2, AD, 181350
  • Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
  • Charcot Marie Tooth disease, type 2B1, 605588
Tags
Green Green List (high evidence)
LRSAM1
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Charcot Marie Toothe disease, axonal, type 2P, 614436
Tags
Green Green List (high evidence)
MAG
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • London North GLH
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, OMIM:616680
Tags
Green Green List (high evidence)
MCM3AP
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Tags
Green Green List (high evidence)
MFN2
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087
  • Hereditary motor and sensory neuropathy VIA, OMIM:601152
Tags
Green Green List (high evidence)
MME
9 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Other
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017
Tags
  • adult-onset
Green Green List (high evidence)
MORC2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2Z
Tags
Green Green List (high evidence)
MPV17
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Tags
Green Green List (high evidence)
MPZ
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, congenital hypomyelinating, 605253
  • Dejerine Sottas disease, 145900
  • Charcot Marie Tooth disease, dominant intermediate D, 607791
  • Roussy Levy syndrome, 180800
  • Charcot Marie Tooth disease, type 2J, 607736
  • Charcot Marie Tooth disease, type 1B, 118200
  • Charcot Marie Tooth disease, type 2I, 607677
Tags
Green Green List (high evidence)
MT-ATP6
5 reviews
3 green
MITOCHONDRIAL
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
  • gene-checked
Green Green List (high evidence)
MTMR2
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B1, 601382
Tags
Green Green List (high evidence)
MYH14
7 reviews
4 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369
Tags
Green Green List (high evidence)
NDRG1
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 4D, 601455
Tags
Green Green List (high evidence)
NEFH
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
Tags
Green Green List (high evidence)
NEFL
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate G, 617882
  • Charcot Marie Tooth disease, type 1F, 607734
  • Charcot Marie Tooth disease, type 2E, 607684
Tags
Green Green List (high evidence)
NGF
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type V, 608654
  • Hereditary Sensory and Autonomic Neuropathy, Type V
Tags
Green Green List (high evidence)
NTRK1
9 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
  • Insensitivity to pain, congenital, with anhidrosis, OMIM:256800
Tags
Green Green List (high evidence)
OPA1
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Optic atrophy plus syndrome, OMIM:125250
  • Behr syndrome, OMIM:210000
Tags
Green Green List (high evidence)
PDK3
10 reviews
4 green 1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
Tags
Green Green List (high evidence)
PIGB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 80, OMIM:618580
Tags
Green Green List (high evidence)
PLEKHG5
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
  • Charcot Marie Tooth disease, recessive intermediate C, 615376
Tags
Green Green List (high evidence)
PMP2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Tags
Green Green List (high evidence)
PMP22
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Dejerine Sottas disease, 145900
  • Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
  • Neuropathy, recurrent, with pressure palsies, 162500
  • Charcot Marie Tooth disease, type 1A, 118220
  • Neuropathy, inflammatory demyelinating, 139393
Tags
Green Green List (high evidence)
PNKP
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy
  • Microcephaly, seizures, and developmental delay, 613402
  • Ataxia-oculomotor apraxia 4, 616267
Tags
Green Green List (high evidence)
POLR3B
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • POLR3B-related neurodevelopmental disorder
  • Ataxia, spasticity, and demyelinating neuropathy
Tags
Green Green List (high evidence)
PPOX
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Porphyria variegata, 176200
  • Skin photosensitivity. Acute episodes similar to AIP
Tags
  • Q3_23_MOI
Green Green List (high evidence)
PRDM12
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488
  • congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
Tags
Green Green List (high evidence)
PRPS1
9 reviews
6 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, X linked recessive, 5, 311070
Tags
Green Green List (high evidence)
PRX
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, type 4F, OMIM:614895
  • Dejerine-Sottas disease, OMIM:145900
Tags
Green Green List (high evidence)
RAB7A
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, 600882
Tags
Green Green List (high evidence)
REEP1
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spastic paraplegia 31, autosomal dominant 610250
  • ?Neuronopathy, distal hereditary motor, type VB, 614751
  • Cardiomyopathy
Tags
Green Green List (high evidence)
RETREG1
8 reviews
5 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115
Tags
Green Green List (high evidence)
SBF1
8 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B3, 615284
Tags
Green Green List (high evidence)
SBF2
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 4B2, 604563
Tags
Green Green List (high evidence)
SCN10A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic pain syndrome, familial, 2, 615551
Tags
Green Green List (high evidence)
SCN11A
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CONGENITAL INABILITY TO EXPERIENCE PAIN
  • Neuropathy, hereditary sensory and autonomic, type VII, 615548
  • Episodic pain syndrome, familial, 3, 615552
Tags
Green Green List (high evidence)
SCN9A
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
Tags
Green Green List (high evidence)
SCO2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease type 4, MONDO:0018995
  • Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377
Tags
Green Green List (high evidence)
SEPT9
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Amyotrophy, hereditary neuralgic
  • Neuralgic amyotrophy
Tags
  • new-gene-name
Green Green List (high evidence)
SETX
8 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
Tags
Green Green List (high evidence)
SH3TC2
10 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, type 4C, OMIM:601596
  • Mononeuropathy of the median nerve, mild, OMIM:613353
Tags
Green Green List (high evidence)
SIGMAR1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
SLC25A46
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505
  • Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260
Tags
Green Green List (high evidence)
SLC52A2
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867
  • Hereditary sensory and autonomic neuropathy, MONDO:0015364
Tags
  • treatable
Green Green List (high evidence)
SLC52A3
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Fazio-Londe disease
  • dHMN
  • Brown-Vialetto-Van Laere syndrome 1
Tags
Green Green List (high evidence)
SLC5A6
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973
Tags
Green Green List (high evidence)
SLC5A7
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA
Tags
Green Green List (high evidence)
SMN1
7 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinal muscular atrophy-3, OMIM:253400
  • Spinal muscular atrophy-4, OMIM:271150
  • Spinal muscular atrophy-2, OMIM:253550
  • Spinal muscular atrophy-1, OMIM:253300
Tags
Green Green List (high evidence)
SORD
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912
  • sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055
Tags
Green Green List (high evidence)
SPG11
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary Neuropathies
  • axonal Charcot-Marie-Tooth disease type 2X
Tags
Green Green List (high evidence)
SPTLC1
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory and autonomic, type IA, 162400
Tags
Green Green List (high evidence)
SPTLC2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type IC
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
Tags
Green Green List (high evidence)
TECPR2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
Tags
Green Green List (high evidence)
TFG
8 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484
  • Spastic paraplegia 57, autosomal recessive, OMIM:615658
Tags
Green Green List (high evidence)
TRIM2
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 2R, 615490
Tags
Green Green List (high evidence)
TRPV4
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary motor and sensory neuropathy, type IIc, 606071
Tags
Green Green List (high evidence)
TTR
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related, 105210
  • FAP
  • Cardiomyopathy
Tags
Green Green List (high evidence)
UBA1
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Tags
Green Green List (high evidence)
VAPB
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980
  • Amyotrophic lateral sclerosis 8, OMIM:608627
Tags
Green Green List (high evidence)
VCP
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 2Y, OMIM:616687
Tags
Green Green List (high evidence)
VRK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
Phenotypes
  • Distal hereditary motor neuropathy
Tags
Green Green List (high evidence)
VWA1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216
  • neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Tags
  • STR
Green Green List (high evidence)
WARS
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neuronopathy, distal hereditary motor, type IX, 617721
Tags
  • new-gene-name
Green Green List (high evidence)
WNK1
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300
Tags
Green Green List (high evidence)
YARS
9 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate C, 608323
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ABHD12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar atrophy,612674
  • Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Tags
Amber Amber List (moderate evidence)
AGTPBP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy
  • Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
AGXT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperoxaluria, primary, type 1, 259900
  • Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing)
Tags
Amber Amber List (moderate evidence)
AP1S1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • MEDNIK syndrome, 609313
  • Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Tags
Amber Amber List (moderate evidence)
APOA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Tags
Amber Amber List (moderate evidence)
APTX
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • ATAXIA WITH OCULOMOTOR APRAXIA 1
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Tags
Amber Amber List (moderate evidence)
ARHGEF10
10 reviews
4 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • ?Slowed nerve conduction velocity, AD, 608236
Tags
Amber Amber List (moderate evidence)
ARSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Severe late infantile form with mental retardation and severe course. Regression before 30 months
  • adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
  • Metachromatic leukodystrophy, 250100
Tags
Amber Amber List (moderate evidence)
ATL3
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Tags
Amber Amber List (moderate evidence)
ATM
7 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Ataxia-telangiectasia, OMIM:208900
  • Hereditary Neuropathies
Tags
Amber Amber List (moderate evidence)
B4GALNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
  • Spastic paraplegia 26, autosomal recessive, 609195
  • SPG26
Tags
Amber Amber List (moderate evidence)
BAG3
7 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Myopathy, myofibrillar, 6 612954
  • Cardiomyopathy, dilated, 1HH, 613881
Tags
Amber Amber List (moderate evidence)
BCKDHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Maple syrup urine disease, type Ib, 248600
  • Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath
  • Maple Syrup Urine Disease
Tags
Amber Amber List (moderate evidence)
C12orf65
8 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 7, OMIM:613559
  • Spastic paraplegia 55, autosomal recessive, OMIM:615035
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
CADM3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2FF, OMIM:619519
Tags
  • watchlist
Amber Amber List (moderate evidence)
CD59
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
Tags
Amber Amber List (moderate evidence)
CNTNAP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3, 618186
Tags
Amber Amber List (moderate evidence)
COA7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Tags
Amber Amber List (moderate evidence)
COQ7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
CTDP1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
Tags
Amber Amber List (moderate evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
  • Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Tags
Amber Amber List (moderate evidence)
DEGS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition
  • Leukodystrophy, hypomyelinating, 18, 618404
Tags
Amber Amber List (moderate evidence)
DGUOK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Portal hypertension, noncirrhotic, 617068
  • Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Tags
Amber Amber List (moderate evidence)
DHTKD1
7 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
DHX9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Adult-onset axonal neuropathy
  • Charcot-Marie-Tooth disease, MONDO:0015626
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
DNAJC3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
EMILIN1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal dominant 10, OMIM:620080
Tags
Amber Amber List (moderate evidence)
ERCC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
  • Cockayne syndrome, type B, 133540
Tags
Amber Amber List (moderate evidence)
ERCC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
  • Cockayne syndrome, type A, 216400
Tags
Amber Amber List (moderate evidence)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Glutaric acidemia IIC, 231680
  • Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive
Tags
Amber Amber List (moderate evidence)
FAH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP
  • Tyrosinemia, type I, 276700
Tags
Amber Amber List (moderate evidence)
FAM126A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV
  • Leukodystrophy, hypomyelinating, 5, 610532
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
FBXO38
7 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Neuronopathy, distal hereditary motor, type IID, 615575
Tags
Amber Amber List (moderate evidence)
FLVCR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
  • Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI
Tags
Amber Amber List (moderate evidence)
FXN
8 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Friedreich ataxia, OMIM:229300
  • Friedreich ataxia with retained reflexes, OMIM:229300
Tags
  • nucleotide-repeat-expansion
Amber Amber List (moderate evidence)
GALC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Krabbe disease, OMIM:245200
Tags
Amber Amber List (moderate evidence)
GAN
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Giant axonal neuropathy-1
Tags
Amber Amber List (moderate evidence)
GBA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
  • Spastic paraplegia 46, autosomal recessive, 614409
Tags
Amber Amber List (moderate evidence)
GJC2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804
  • Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy
  • Spastic paraplegia 44, autosomal recessive, 613206
Tags
Amber Amber List (moderate evidence)
GLA
6 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Cardiomyopathy
Tags
Amber Amber List (moderate evidence)
HADHA
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Trifunctional protein deficiency, 609015
Tags
Amber Amber List (moderate evidence)
HADHB
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Trifunctional protein deficiency, 609015
Tags
Amber Amber List (moderate evidence)
IARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
Tags
Amber Amber List (moderate evidence)
ITPR3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
JAG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Vocal cord palsy
  • Peripheral neuropathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
KCNA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Epileptic encephalopathy, early infantile, 32, 616366
  • Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
Tags
Amber Amber List (moderate evidence)
LYST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Chediak-Higashi syndrome, 214500
  • Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Tags
Amber Amber List (moderate evidence)
MMACHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Onset infancy to adulthood
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
  • thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
Tags
Amber Amber List (moderate evidence)
MT-RNR1
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinsonism, deafness, and sensory-motor axonal neuropathy
Tags
Amber Amber List (moderate evidence)
MT-TL1
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
Tags
Amber Amber List (moderate evidence)
MTTP
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Abetalipoproteinemia, 200100
Tags
Amber Amber List (moderate evidence)
NAGA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Kanzaki disease, 609242
  • Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI
Tags
Amber Amber List (moderate evidence)
NEMF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotonia
  • Axonal neuropathy
  • Ataxia
  • Abnormal brain imaging
  • Global developmental delay
  • Intellectual disability
  • Kyphosis
  • Scoliosis
  • Tremor
  • Respiratory distress
Tags
  • for-review
  • to_be_confirmed_NHSE
  • watchlist
Amber Amber List (moderate evidence)
NUDT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sensorimotor polyneuropathy
  • Muscular hypotonia
  • Intellectual disability
  • no OMIM number
Tags
  • founder-effect
  • watchlist
Amber Amber List (moderate evidence)
OPA3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction
  • Optic atrophy 3 with cataract, 165300
  • 3-methylglutaconic aciduria, type III, 258501
Tags
Amber Amber List (moderate evidence)
PDHA1
6 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
PDYN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 23, 610245
  • Cerebellar ataxia, sensory-motor axonal neuropathy
Tags
Amber Amber List (moderate evidence)
PEX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger), 614870
  • Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
  • Peroxisome biogenesis disorder 6B, 614871
Tags
Amber Amber List (moderate evidence)
PEX7
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
  • Refsum disease
Tags
Amber Amber List (moderate evidence)
PHYH
6 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
Tags
Amber Amber List (moderate evidence)
PLP1
6 reviews
2 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Amber Amber List (moderate evidence)
PMM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy
  • Congenital disorder of glycosylation, type Ia, 212065
Tags
Amber Amber List (moderate evidence)
PNPLA6
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Childhood onset of slowly progressive spastic paraplegia
  • progressive distal motor neuropathy beginning in early through late adolescence
Tags
Amber Amber List (moderate evidence)
POLG
6 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)
  • Mitochondrial DNA depletion syndrome 4A (Alpers type)
  • Cardiomyopathy
  • Progressive external ophthalmoplegia, autosomal recessive 1
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
  • Progressive external ophthalmoplegia, autosomal dominant 1
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type)
Tags
Amber Amber List (moderate evidence)
POLR3A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
  • Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
Tags
Amber Amber List (moderate evidence)
PRKCG
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Spinocerebellar ataxia 14, 605361
  • Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome
Tags
Amber Amber List (moderate evidence)
PSMC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354
Tags
Amber Amber List (moderate evidence)
PTEN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Cowden syndrome 1, 158350
  • multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
Tags
Amber Amber List (moderate evidence)
PTPN11
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
  • Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
Tags
Amber Amber List (moderate evidence)
PTRH2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263
  • Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Tags
Amber Amber List (moderate evidence)
SACS
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary Neuropathies
Tags
Amber Amber List (moderate evidence)
SARS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • hereditary peripheral neuropathy, MONDO:0020127
Tags
  • new-gene-name
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SCARB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure, 254900
  • Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure)
Tags
Amber Amber List (moderate evidence)
SCYL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21, 616719
  • Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Tags
Amber Amber List (moderate evidence)
SLC12A6
10 reviews
8 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068
  • Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Tags
  • for-review
  • Q4_23_NHS_review
  • Q4_23_promote_green
  • to_be_confirmed_NHSE
Amber Amber List (moderate evidence)
SLC25A19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Tags
Amber Amber List (moderate evidence)
SOX10
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584
  • Waardenburg syndrome, type 4C, 613266
  • PCWH syndrome, 609136
  • Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
Tags
Amber Amber List (moderate evidence)
SPAST
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, OMIM:182601
  • hereditary spastic paraplegia 4, MONDO:0008438
Tags
Amber Amber List (moderate evidence)
SPG7
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)
SPTAN1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 5, OMIM:613477
  • developmental and epileptic encephalopathy, 5, MONDO:0013277
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
SPTBN4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519
Tags
  • for-review
  • to_be_confirmed_NHSE
Amber Amber List (moderate evidence)
SUCLA2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Tags
Amber Amber List (moderate evidence)
SURF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Leigh syndrome, due to COX IV deficiency, 256000
  • Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Tags
Amber Amber List (moderate evidence)
SYT2
9 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
TDP1
9 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250
Tags
  • founder-effect
Amber Amber List (moderate evidence)
TRPA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic pain syndrome, familial, 1, 615040
Tags
Amber Amber List (moderate evidence)
TTPA
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa
Tags
Amber Amber List (moderate evidence)
TUBB3
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
  • CFEOM3A
  • Fibrosis of extraocular muscles, congenital, 3A
Tags
Amber Amber List (moderate evidence)
TWNK
6 reviews
1 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
  • Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy
Tags
Amber Amber List (moderate evidence)
TYMP
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Tags
Amber Amber List (moderate evidence)
VPS13A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Choreoacanthocytosis, 200150
  • Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK
Tags
Amber Amber List (moderate evidence)
XK
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
  • McLeod syndrome with or without chronic granulomatous disease, 300842
Tags
Amber Amber List (moderate evidence)
XPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy
  • Xeroderma pigmentosum, group A, 278700
Tags
Amber Amber List (moderate evidence)
XRCC1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
Tags
Amber Amber List (moderate evidence)
ZFYVE26
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy
  • Spastic paraplegia 15, autosomal recessive, 270700
Tags
Red Red List (low evidence)
ABCC9
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ACTC1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ACTN2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ALDH3A2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
ANKRD1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ARL6IP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 61, autosomal recessive, 615685
  • Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy
Tags
Red Red List (low evidence)
BRAF
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
C19orf12
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
  • Spastic paraplegia 43, autosomal recessive, 615043
  • Neurodegeneration with brain iron accumulation 4, 614298
Tags
Red Red List (low evidence)
CACNB4
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
CASQ2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
CAV3
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
CCT5
7 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Sensory Neuropathy with Spastic Paraplegia
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Tags
Red Red List (low evidence)
CLTCL1
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
COQ8A
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
CRYAB
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
CSRP3
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
DCAF8
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Giant axonal neuropathy 2, autosomal dominant, 610100
Tags
Red Red List (low evidence)
DES
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
DHH
5 reviews
1 red
Not set
Sources
  • NHS GMS
  • South West GLH
  • UKGTN
Tags
Red Red List (low evidence)
DMD
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
  • Skewed X-inactivation
Red Red List (low evidence)
DSC2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
DSG2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
DSP
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
DSTYK
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
  • Spastic paraplegia 23, 270750
Tags
Red Red List (low evidence)
DTNA
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
EMD
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ERBB3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Lethal congenital contractural syndrome 2, 607598
  • Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
Tags
Red Red List (low evidence)
FA2H
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
  • Spastic paraplegia 35, autosomal recessive, 612319
Tags
Red Red List (low evidence)
FGF14
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
FKTN
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
GAA
7 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
GATAD1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
GLE1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Lethal congenital contracture syndrome 1, 253310
  • Congenital arthrogryposis with anterior horn cell disease, 611890
  • Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
Tags
Red Red List (low evidence)
HOXD10
6 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, foot deformity of, 192950
Tags
Red Red List (low evidence)
HRAS
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
HSPB3
7 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type IIC, 613376
Tags
Red Red List (low evidence)
ITPR1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
JPH2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
JUP
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
KARS
7 reviews
1 green 3 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Deafness, autosomal recessive 89, 613916
  • Charcot-Marie-Tooth, Intermediate (Dominant)
  • Charcot-Marie-Tooth, Intermediate (Dominant).
  • Charcot Marie Tooth disease, recessive intermediate, B, 613641
Tags
Red Red List (low evidence)
KCNA1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
KCNC3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
KIF1B
7 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 2A1, 118210
Tags
Red Red List (low evidence)
KLC2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy
  • Spastic paraplegia, optic atrophy, and neuropathy, 609541
Tags
Red Red List (low evidence)
KRAS
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
L1CAM
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
LAMA4
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
LAMP2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
LAS1L
4 reviews
3 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
LDB3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MAP2K1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MAP2K2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MARS
7 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Tags
  • new-gene-name
Red Red List (low evidence)
MED25
7 reviews
2 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 2B2, 605589
Tags
Red Red List (low evidence)
MRE11
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
MYBPC3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MYH6
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MYH7
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MYL2
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MYL3
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MYOZ2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MYPN
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
NAGLU
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
Tags
Red Red List (low evidence)
NEBL
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
NEXN
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
NIPA1
6 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Spastic paraplegia 6, autosomal dominant
Tags
Red Red List (low evidence)
NRAS
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PCYT2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spastic paraplegia 82, autosomal recessive, OMIM:618770
  • axonal neuropathy, MONDO:0004183
Tags
Red Red List (low evidence)
PDLIM3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PKP2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PLN
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PRKAG2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PRNP
5 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
RAF1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RBM20
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RFC1
6 reviews
3 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575
  • cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720
Tags
  • STR
Red Red List (low evidence)
RIT1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RYR2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
SCN5A
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
SCP2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, 613724
  • Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
Tags
Red Red List (low evidence)
SELENOI
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals
Tags
Red Red List (low evidence)
SGCD
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
SIL1
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
SLC1A3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
SLC52A1
5 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Riboflavin deficiency
  • dHMN
Tags
Red Red List (low evidence)
SOS1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
SPART
5 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
SPG21
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
SPTBN2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
TAZ
6 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
  • new-gene-name
Red Red List (low evidence)
TCAP
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TMEM43
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TNNC1
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TNNI3
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TNNT2
6 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TPM1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TTBK2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
TTN
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
UBA5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Hypomyelinating neuropathy
Tags
Red Red List (low evidence)
VCL
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
WASHC5
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
ZFYVE27
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
No list No list
C1orf94
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Removed
Phenotypes
  • Intermediate Charcot-Marie-Tooth disease
Tags
  • curated_removed
No list No list
MT-ND6
1 review
1 green
MITOCHONDRIAL
Sources
  • Literature
Phenotypes
  • LHON
  • peripheral neuropathy
Tags

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