Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R78 Hereditary neuropathy - NOT PMP22 copy number' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 - NOT PMP22 copy number'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

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

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

16 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Mary Reilly (Institute of Neurology)

    Group: GeCIP domain
    Workplace: Other clinical service

  • Alexander Rossor (UCL Institute of Neurology)

    Group: Other NHS organisation
    Workplace: NHS clinical service

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

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

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

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Natalie Forrester (SWGLH - Bristol Genetics)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

289 Entities

289 reviewed, 93 green

List Entity Reviews Mode of inheritance Details
289 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, Type 2
  • Charcot Marie Tooth disease, axonal, type 2N, 613287
  • Charcot-Marie-Tooth, Type 2
Tags
  • new-gene-name
Green Green List (high evidence)
AIFM1
6 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cowchock syndrome
  • Combined oxidative phosphorylation deficiency 6
Tags
Green Green List (high evidence)
APTX
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • ATAXIA WITH OCULOMOTOR APRAXIA 1
Tags
Green Green List (high evidence)
ARHGEF10
7 reviews
3 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • ?Slowed nerve conduction velocity, AD, 608236
Tags
Green Green List (high evidence)
ATL1
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory, type ID, 613708
Tags
Green Green List (high evidence)
ATL3
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Tags
Green Green List (high evidence)
ATM
7 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Ataxia-telangiectasia
Tags
Green Green List (high evidence)
ATP7A
8 reviews
6 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
Tags
Green Green List (high evidence)
ATXN10_ATTCT
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 10 603516
Tags
  • STR
Green Green List (high evidence)
ATXN1_CAG
STR
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
  • STR
Green Green List (high evidence)
ATXN2_CAG
STR
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • STR
Green Green List (high evidence)
ATXN3_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
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 VA 600794
  • Encephalopathy, progressive, with or without lipodystrophy, 615924
  • Lipodystrophy, congenital generalized, type 2 269700
  • Silver spastic paraplegia syndrome 270685
Tags
Green Green List (high evidence)
C12orf65
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
Tags
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)
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)
DNM2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate B, 606482
  • Myopathy, centronuclear, 160150
  • Myopathy, centronuclear, 160150
  • Lethal congenital contracture syndrome 5, 615368
  • Charcot Marie Tooth disease, axonal, type 2M, 606482
  • Charcot-Marie-Tooth, Intermediate
  • Lethal congenital contracture syndrome 5, 615368
  • Charcot Marie Tooth disease, axonal, type 2M, 606482
  • Charcot-Marie-Tooth, Intermediate
Tags
Green Green List (high evidence)
DNMT1
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
  • Neuropathy, hereditary sensory, type IE, 614116
  • Neuropathy, hereditary sensory, type IE, 614116
  • Dementia, Deafness, and Sensory Neuropathy
Tags
Green Green List (high evidence)
DYNC1H1
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 20, 614228
  • Mental retardation, autosomal dominant 13, 614563
  • Spinal muscular atrophy, lower extremity predominant, AD, 158600
Tags
Green Green List (high evidence)
EGR2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 1D, 607678
  • Charcot-Marie-Tooth, Type 1
Tags
Green Green List (high evidence)
ELP1
7 reviews
4 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, 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
Tags
Green Green List (high evidence)
FGD4
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth, Type 4
  • Charcot Marie Tooth disease, type 4H, 609311
  • Charcot-Marie-Tooth, Type 4
  • Charcot Marie Tooth disease, type 4H, 609311
Tags
Green Green List (high evidence)
FIG4
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
  • Yunis Varon syndrome, 216340
  • Yunis Varon syndrome, 216340
  • Amyotrophic lateral sclerosis 11, 612577
  • Charcot Marie Tooth disease, type 4J, 611228
  • Amyotrophic lateral sclerosis 11, 612577
Tags
Green Green List (high evidence)
FXN_GAA
STR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
Green Green List (high evidence)
GAN
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
  • Giant axonal neuropathy-1
Tags
Green Green List (high evidence)
GARS
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, distal hereditary motor, type V, 600794
  • Neuropathy, distal hereditary motor, type V, 600794
  • Charcot Marie Tooth disease, type 2D, 601472
Tags
  • new-gene-name
Green Green List (high evidence)
GDAP1
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, axonal, type 2K, 607831
  • Charcot Marie Tooth disease, type 4A, 214400
  • Charcot-Marie-Tooth, Intermediate (Dominant)
  • Charcot Marie Tooth disease, type 4A, 214400
  • Charcot Marie Tooth disease, recessive intermediate, A, 608340
  • Charcot Marie Tooth disease, axonal, type 2K, 607831
  • Charcot-Marie-Tooth, Intermediate (Dominant)
  • Charcot-Marie-Tooth with Vocal Cord Paresis (recessive)
  • Charcot Marie Tooth disease, recessive intermediate, A, 608340
Tags
Green Green List (high evidence)
GJB1
8 reviews
6 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
  • Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
  • Charcot-Marie-Tooth, X-linked
  • Charcot-Marie-Tooth, X-linked
Tags
Green Green List (high evidence)
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 Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cardiomyopathy
Tags
Green Green List (high evidence)
HARS
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
  • new-gene-name
Green Green List (high evidence)
HINT1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
HK1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary motor and sensory, Russe type, 605285
  • Hemolytic anemia due to hexokinase deficiency, 235700
  • Neuropathy, hereditary motor and sensory, Russe type, 605285
Tags
Green Green List (high evidence)
HSPB1
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, distal hereditary motor, type IIB, 608634
  • Neuropathy, distal hereditary motor, type IIB, 608634
  • Charcot Marie Tooth disease, axonal, type 2F, 606595
Tags
Green Green List (high evidence)
HSPB8
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2L, 608673
  • Neuropathy, distal hereditary motor, type IIA, 158590
  • Neuropathy, distal hereditary motor, type IIA, 158590
Tags
Green Green List (high evidence)
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
Phenotypes
  • 118220
  • Charcot-Marie-Tooth neuropathy type 1
  • distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop
  • hereditary neuropathy
Tags
Green Green List (high evidence)
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
ISCA-37436-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 162500
  • Charcot-Marie-Tooth disease, type 1A
  • muscle weakness
  • repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop
  • Neuropathy, recurrent, with pressure palsies
  • mild to moderate peripheral neuropathy
Tags
Green Green List (high evidence)
KIF1A
5 reviews
4 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
Phenotypes
  • Neuropathy, hereditary sensory, type IIC, 614213
  • Hereditary Sensory and Autonomic Neuropathy, Type II
Tags
Green Green List (high evidence)
KIF5A
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary Neuropathies
  • Spastic paraplegia 10, autosomal dominant
Tags
Green Green List (high evidence)
LITAF
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 1C, 601098
  • Charcot Marie Tooth disease, type 1C, 601098
Tags
Green Green List (high evidence)
LMNA
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1A, 115200
  • Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
  • Charcot Marie Tooth disease, type 2B1, 605588
  • Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
  • Emery Dreifuss muscular dystrophy 2, AD, 181350
  • Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
  • Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
  • Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
  • Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
  • Lipodystrophy, familial partial, 2, 151660
  • Lipodystrophy, familial partial, 2, 151660
  • Emery Dreifuss muscular dystrophy 3, AR, 181350
  • Emery Dreifuss muscular dystrophy 3, AR, 181350
  • Emery Dreifuss muscular dystrophy 2, AD, 181350
  • Cardiomyopathy, dilated, 1A, 115200
Tags
Green Green List (high evidence)
LRSAM1
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Charcot Marie Toothe disease, axonal, type 2P, 614436
  • Charcot Marie Toothe disease, axonal, type 2P, 614436
Tags
Green Green List (high evidence)
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, Type 2 (Dominant)
  • MFN2 axonal neuropathy
  • MFN2 axonal neuropathy
  • Charcot-Marie-Tooth, Type 2 (Dominant)
  • Charcot Marie Tooth disease, type 2A2, 609260
  • Hereditary motor and sensory neuropathy VI, 601152
  • Hereditary motor and sensory neuropathy VI, 601152
  • Hereditary Motor and Sensory Neuropathy (Recessive)
  • Hereditary Motor and Sensory Neuropathy (Recessive)
Tags
Green Green List (high evidence)
MME
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Other
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2T, 617017
Tags
  • adult-onset
Green Green List (high evidence)
MORC2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2Z 616688
  • Charcot-Marie-Tooth disease, axonal, type 2Z, 616688
  • axonal Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
MPV17
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Tags
Green Green List (high evidence)
MPZ
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 2I, 607677
  • Charcot Marie Tooth disease, type 1B, 118200
  • Charcot Marie Tooth disease, type 2J, 607736
  • Roussy Levy syndrome, 180800
  • Charcot Marie Tooth disease, type 2J, 607736
  • Roussy Levy syndrome, 180800
  • Charcot Marie Tooth disease, type 2I, 607677
  • Charcot Marie Tooth disease, dominant intermediate D, 607791
  • Dejerine Sottas disease, 145900
  • Dejerine Sottas disease, 145900
  • Charcot Marie Tooth disease, dominant intermediate D, 607791
  • Neuropathy, congenital hypomyelinating, 605253
  • Neuropathy, congenital hypomyelinating, 605253
Tags
Green Green List (high evidence)
MT-ATP6
5 reviews
3 green
MITOCHONDRIAL
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
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)
NDRG1
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 4D, 601455
  • Charcot Marie Tooth disease, type 4D, 601455
Tags
Green Green List (high evidence)
NEFL
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 2E, 607684
  • Charcot Marie Tooth disease, type 1F, 607734
  • Charcot Marie Tooth disease, type 1F, 607734
  • Charcot-Marie-Tooth disease, dominant intermediate G, 617882
Tags
Green Green List (high evidence)
NGF
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type V, 608654
  • Hereditary Sensory and Autonomic Neuropathy, Type V
  • Neuropathy, hereditary sensory and autonomic, type V, 608654
  • Hereditary Sensory and Autonomic Neuropathy, Type V
Tags
Green Green List (high evidence)
NTRK1
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
  • Insensitivity to pain, congenital, with anhidrosis
Tags
Green Green List (high evidence)
PDHA1
6 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
PEX7
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
  • Refsum disease
Tags
Green Green List (high evidence)
PHYH
6 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
Tags
Green Green List (high evidence)
PLEKHG5
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, recessive intermediate C, 615376
  • Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
  • Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
Tags
Green Green List (high evidence)
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
  • Neuropathy, inflammatory demyelinating, 139393
  • Charcot Marie Tooth disease, type 1A, 118220
  • Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
  • Dejerine Sottas disease, 145900
  • Dejerine Sottas disease, 145900
  • Neuropathy, recurrent, with pressure palsies, 162500
  • Neuropathy, recurrent, with pressure palsies, 162500
  • Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
  • Neuropathy, inflammatory demyelinating, 139393
Tags
Green Green List (high evidence)
POLG
6 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cardiomyopathy
  • sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)
  • Mitochondrial DNA depletion syndrome 4A (Alpers type)
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type)
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
  • Progressive external ophthalmoplegia, autosomal dominant 1
  • Progressive external ophthalmoplegia, autosomal recessive 1
Tags
Green Green List (high evidence)
PRDM12
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • hereditary sensory & autonomic neuropathy type VIII
Tags
Green Green List (high evidence)
PRNP
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
PRPS1
9 reviews
6 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, X linked recessive, 5, 311070
Tags
Green Green List (high evidence)
PRX
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Dejerine Sottas disease, autosomal recessive, 145900
  • Charcot Marie Tooth disease, type 4F, 614895
  • Dejerine Sottas disease, autosomal recessive, 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
  • ?Neuronopathy, distal hereditary motor, type VB, 614751
  • Spastic paraplegia 31, autosomal dominant 610250
  • Cardiomyopathy
Tags
Green Green List (high evidence)
RETREG1
8 reviews
5 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115
Tags
Green Green List (high evidence)
SACS
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary Neuropathies
Tags
Green Green List (high evidence)
SBF2
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 4B2, 604563
  • Charcot Marie Tooth disease, type 4B2, 604563
Tags
Green Green List (high evidence)
SCN11A
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Episodic pain syndrome, familial, 3, 615552
  • Neuropathy, hereditary sensory and autonomic, type VII, 615548
  • CONGENITAL INABILITY TO EXPERIENCE PAIN
Tags
Green Green List (high evidence)
SCN9A
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
Tags
Green Green List (high evidence)
SEPT9
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Amyotrophy, hereditary neuralgic
  • Neuralgic amyotrophy
Tags
  • new-gene-name
Green Green List (high evidence)
SETX
7 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
SH3TC2
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
  • Mononeuropathy of the median nerve, mild, 613353
  • Charcot Marie Tooth disease, type 4C, 601596
Tags
Green Green List (high evidence)
SIGMAR1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
SLC12A6
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
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
  • Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Tags
Green Green List (high evidence)
SLC52A2
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Tags
  • treatable
Green Green List (high evidence)
SLC52A3
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • dHMN
  • Brown-Vialetto-Van Laere syndrome 1
  • Fazio-Londe disease
Tags
Green Green List (high evidence)
SMN1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinal muscular atrophy
Tags
  • gene-therapy-trial
Green Green List (high evidence)
SPAST
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
  • Spastic paraplegia 4, autosomal dominant
  • Spasticity
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
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory and autonomic, type IA, 162400
Tags
Green Green List (high evidence)
SPTLC2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type IC
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
  • Hereditary Sensory and Autonomic Neuropathy, Type IC
Tags
Green Green List (high evidence)
TFG
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
  • Hereditary motor and sensory neuropathy, proximal type, 604484
  • Chondrosarcoma, extraskeletal myxoid, 612237
  • Hereditary motor and sensory neuropathy, Okinawa type
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
  • treatable
Green Green List (high evidence)
TUBB3
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 3A
  • CFEOM3A
  • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Tags
Green Green List (high evidence)
TYMP
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Tags
Green Green List (high evidence)
VCP
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 2Y
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
Tags
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
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Pseudohypoaldosteronism, type IIC, 614492
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory and autonomic, type II, 201300
  • Pseudohypoaldosteronism, type IIC, 614492
Tags
Green Green List (high evidence)
YARS
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 C, 608323
  • Charcot Marie Tooth disease, dominant intermediate C, 608323
Tags
Amber Amber List (moderate evidence)
AR_CAG
STR
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
  • STR
Amber Amber List (moderate evidence)
ATXN7_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 7 164500
  • Adult onset, cerebellar ataxia, pigmentary macular degeneration, sensory-motor axonal neuropathy
Tags
  • STR
Amber Amber List (moderate evidence)
FMR1_CGG
STR
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Fragile X syndrome 300624
  • Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI
Tags
  • currently-ngs-unreportable
  • STR
Amber Amber List (moderate evidence)
NOP56_GGCCTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy
Tags
  • STR
Amber Amber List (moderate evidence)
PPP2R2B_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 12 604326
  • Adult onset cerebellar ataxia, tremor of head and arms, subclinical sensory-motor axonal neuropathy
  • neuropathy minor feature
Tags
  • STR
Amber Amber List (moderate evidence)
SYT2
7 reviews
2 green
Not set
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic
Tags
  • missense
  • watchlist
Amber Amber List (moderate evidence)
VRK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Distal hereditary motor neuropathy
Tags
Red Red List (low evidence)
ABCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Tangier disease, 205400
  • Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly
  • pain, paresthesias, anaesthesia
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)
ABHD12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
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)
AGTPBP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
  • Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy
Tags
Red Red List (low evidence)
AGXT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
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)
AP1S1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Red Red List (low evidence)
APOA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
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)
ARSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Metachromatic leukodystrophy, 250100
  • Severe late infantile form with mental retardation and severe course. Regression before 30 months
  • adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Tags
Red Red List (low evidence)
ATP1A1
3 reviews
2 green
Not set
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Tags
Red Red List (low evidence)
B4GALNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, 609195
  • SPG26
  • Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
Tags
Red Red List (low evidence)
BAG3
7 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Myopathy, myofibrillar, 6 612954
  • Cardiomyopathy, dilated, 1HH, 613881
Tags
Red Red List (low evidence)
BCKDHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Maple syrup urine disease, type Ib, 248600
  • Maple Syrup Urine Disease
  • Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath
Tags
Red Red List (low evidence)
BRAF
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
C19orf12
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 43, autosomal recessive, 615043
  • Neurodegeneration with brain iron accumulation 4, 614298
  • SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
Tags
Red Red List (low evidence)
CACNB4
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
CASQ2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
CAV3
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
CCT5
7 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
  • Sensory Neuropathy with Spastic Paraplegia
  • Sensory Neuropathy with Spastic Paraplegia
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Tags
Red Red List (low evidence)
CD59
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
  • Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
Tags
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)
CNTNAP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3, 618186
Tags
Red Red List (low evidence)
COA7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
  • Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
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)
CPOX
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Coproporphyria, 121300
  • Harderoporphyria, 121300
  • Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
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)
CTDP1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
Tags
Red Red List (low evidence)
CYP27A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
  • Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy
  • SNCV described in a minority of patients
Tags
Red Red List (low evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
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)
DCTN1
8 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
  • Neuropathy, distal hereditary motor, type VIIB 607641
  • Perry syndrome, 168605
Tags
Red Red List (low evidence)
DEGS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 18, 618404
  • Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition
Tags
Red Red List (low evidence)
DES
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
DGUOK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Portal hypertension, noncirrhotic, 617068
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Tags
Red Red List (low evidence)
DHH
5 reviews
1 red
Not set
Sources
  • NHS GMS
  • South West GLH
  • UKGTN
Tags
Red Red List (low evidence)
DHTKD1
5 reviews
4 red
Not set
Sources
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2Q, 615025
  • 2 aminoadipic 2 oxoadipic aciduria, 204750
  • 2 aminoadipic 2 oxoadipic aciduria, 204750
Tags
Red Red List (low evidence)
DMD
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
DNAJB2
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
DNAJC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
  • Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
Tags
Red Red List (low evidence)
DRP2
4 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Tags
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)
DST
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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
Red Red List (low evidence)
DSTYK
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 23, 270750
  • Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
Tags
Red Red List (low evidence)
DTNA
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
EMD
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ERBB3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Lethal congenital contractural syndrome 2, 607598
  • Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
Tags
Red Red List (low evidence)
ERCC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Cockayne syndrome, type B, 133540
  • Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Tags
Red Red List (low evidence)
ERCC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Cockayne syndrome, type A, 216400
  • Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Tags
Red Red List (low evidence)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Red Red List (low evidence)
FA2H
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 35, autosomal recessive, 612319
  • SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
Tags
Red Red List (low evidence)
FAH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Tyrosinemia, type I, 276700
  • Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP
Tags
Red Red List (low evidence)
FAM126A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 5, 610532
  • Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV
Tags
Red Red List (low evidence)
FBXO38
7 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Neuronopathy, distal hereditary motor, type IID, 615575
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)
FLVCR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
  • Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI
Tags
Red Red List (low evidence)
FXN
7 reviews
3 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
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)
GALC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Krabbe disease, 245200
  • Krabbe. Spastic paraplegia, developmental delay, optic atrophy
  • adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
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)
GBA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409
  • SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
Tags
Red Red List (low evidence)
GJC2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia 44, autosomal recessive, 613206
  • Leukodystrophy, hypomyelinating, 2, 608804
  • Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy
Tags
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)
GNB4
8 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate F, 615185
  • Charcot Marie Tooth disease, dominant intermediate F, 615185
Tags
Red Red List (low evidence)
HADHA
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Trifunctional protein deficiency, 609015
Tags
Red Red List (low evidence)
HADHB
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Trifunctional protein deficiency, 609015
Tags
Red Red List (low evidence)
HMBS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Porphyria, acute intermittent, 176000
  • AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy
Tags
Red Red List (low evidence)
HOXD10
6 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, foot deformity of, 192950
  • Charcot Marie Tooth disease, foot deformity of, 192950
Tags
Red Red List (low evidence)
HRAS
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
HSPB3
7 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type IIC, 613376
Tags
Red Red List (low evidence)
IARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
  • Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy
Tags
Red Red List (low evidence)
ITPR1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
JPH2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
JUP
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
KARS
7 reviews
1 green 3 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth, Intermediate (Dominant).
  • Charcot-Marie-Tooth, Intermediate (Dominant)
  • Deafness, autosomal recessive 89, 613916
  • Deafness, autosomal recessive 89, 613916
  • Charcot Marie Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Tags
  • new-gene-name
Red Red List (low evidence)
KCNA1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
KCNA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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
Red Red List (low evidence)
KCNC3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
KIF1B
7 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 2A1, 118210
Tags
Red Red List (low evidence)
KLC2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy, 609541
  • SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy
Tags
Red Red List (low evidence)
KRAS
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
L1CAM
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
LAMA4
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
LAMP2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
LAS1L
4 reviews
3 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
LDB3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
LYST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Chediak-Higashi syndrome, 214500
  • Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Tags
Red Red List (low evidence)
MAP2K1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MAP2K2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MARS
6 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Tags
  • new-gene-name
Red Red List (low evidence)
MCM3AP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Tags
Red Red List (low evidence)
MED25
7 reviews
2 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 2B2, 605589
  • Charcot Marie Tooth disease, type 2B2, 605589
Tags
Red Red List (low evidence)
MMACHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
  • Onset infancy to adulthood
  • thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
Tags
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)
MT-RNR1
2 reviews
1 green
MITOCHONDRIAL
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Parkinsonism, deafness, and sensory-motor axonal neuropathy
Tags
Red Red List (low evidence)
MT-TL1
2 reviews
1 green
MITOCHONDRIAL
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
Tags
Red Red List (low evidence)
MTTP
5 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • London North GLH
  • 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)
MYH14
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
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)
NAGA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
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)
NEFH
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
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)
OPA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Optic atrophy 1, 165500
  • Optic atrophy plus syndrome, 125250
  • Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy
Tags
Red Red List (low evidence)
OPA3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Optic atrophy 3 with cataract, 165300
  • 3-methylglutaconic aciduria, type III, 258501
  • Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction
Tags
Red Red List (low evidence)
PDK3
7 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
  • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
Tags
Red Red List (low evidence)
PDLIM3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PDYN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 23, 610245
  • Cerebellar ataxia, sensory-motor axonal neuropathy
Tags
Red Red List (low evidence)
PEX10
2 reviews
1 green
Not set
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
  • Peroxisome biogenesis disorder 6A (Zellweger), 614870
  • Peroxisome biogenesis disorder 6B, 614871
Tags
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)
PLP1
6 reviews
2 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
PMM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Ia, 212065
  • Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy
Tags
Red Red List (low evidence)
PMP2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Tags
Red Red List (low evidence)
PNKP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia-oculomotor apraxia 4, 616267
  • Microcephaly, seizures, and developmental delay, 613402
  • Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy
Tags
Red Red List (low evidence)
PNPLA6
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • 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
Red Red List (low evidence)
POLR3A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
  • Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
  • Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain
Tags
Red Red List (low evidence)
PPOX
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Porphyria variegata, 176200
  • Skin photosensitivity. Acute episodes similar to AIP
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)
PRKCG
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome
  • Spinocerebellar ataxia 14, 605361
Tags
Red Red List (low evidence)
PTEN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Cowden syndrome 1, 158350
  • multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
Tags
Red Red List (low evidence)
PTPN11
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
  • Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
Tags
Red Red List (low evidence)
PTRH2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Red Red List (low evidence)
RAF1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RBM20
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RIT1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RYR2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
SBF1
8 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B3, 615284
Tags
  • watchlist
Red Red List (low evidence)
SCARB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Red Red List (low evidence)
SCN10A
2 reviews
1 green
Not set
Sources
  • London North GLH
  • NHS GMS
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)
SCYL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
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)
SLC25A19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
  • Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy
Tags
Red Red List (low evidence)
SLC25A46
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB, 616505
  • Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
Tags
Red Red List (low evidence)
SLC52A1
5 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • dHMN
  • Riboflavin deficiency
  • Riboflavin deficiency
Tags
Red Red List (low evidence)
SLC5A7
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA
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)
SOX10
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Waardenburg syndrome, type 4C, 613266
  • PCWH syndrome, 609136
  • Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584
  • Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
Tags
Red Red List (low evidence)
SPART
5 reviews
1 red
Not set
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)
SPG7
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients
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)
SUCLA2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
  • Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia
Tags
Red Red List (low evidence)
SURF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Red Red List (low evidence)
TAZ
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TCAP
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TDP1
7 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
TMEM43
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TNNC1
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TNNI3
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TNNT2
6 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TPM1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
TRIM2
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 2R, 615490
Tags
Red Red List (low evidence)
TRPA1
2 reviews
1 green
Not set
Sources
  • London North GLH
  • NHS GMS
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)
TTPA
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • 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
Red Red List (low evidence)
TWNK
6 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • 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
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)
VPS13A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Red Red List (low evidence)
WARS
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Neuronopathy, distal hereditary motor, type IX, 617721
Tags
  • new-gene-name
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)
XK
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease, 300842
  • Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Tags
Red Red List (low evidence)
XPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group A, 278700
  • Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy
Tags
Red Red List (low evidence)
XRCC1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 26, 617633
  • Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy
Tags
Red Red List (low evidence)
ZFYVE26
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, 270700
  • Hereditary Neuropathies
  • Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy
Tags
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
NOP56_GGCCTGTT
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Removed
Tags

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