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

15 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

  • 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

221 Entities

221 reviewed, 91 green

List Entity Reviews Mode of inheritance Details
221 Entitiess
Green Green List (high evidence)
AARS
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
Tags
Green Green List (high evidence)
BICD2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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)
GAN
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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
Green Green List (high evidence)
GDAP1
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Tags
Green Green List (high evidence)
HINT1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Tags
  • treatable
Green Green List (high evidence)
SLC52A3
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinal muscular atrophy
Tags
  • gene-therapy-trial
Green Green List (high evidence)
SPAST
6 reviews
1 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
Tags
Green Green List (high evidence)
SPG11
5 reviews
2 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • London North GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Cardiomyopathy
Tags
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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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
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)
FXN_GAA
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
Amber Amber List (moderate evidence)
SYT2
7 reviews
2 green
Not set
Sources
  • Expert Review Amber
  • Expert list
  • 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 Review Amber
  • Expert list
Phenotypes
  • Distal hereditary motor neuropathy
Tags
Red Red List (low evidence)
ABCC9
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ACTC1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ACTN2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
ALDH3A2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
ANKRD1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
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)
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)
BRAF
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
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 Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
  • Sensory Neuropathy with Spastic Paraplegia
  • Sensory Neuropathy with Spastic Paraplegia
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Tags
Red Red List (low evidence)
CLTCL1
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
CNTNAP1
3 reviews
2 green
Not set
Sources
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
COQ8A
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
CRYAB
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
CSRP3
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
CTDP1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
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 Review Red
  • Expert list
  • 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)
DES
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
DHH
5 reviews
1 red
Not set
Sources
  • NHS GMS
  • South West GLH
  • UKGTN
Tags
Red Red List (low evidence)
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
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
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
  • 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
  • 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)
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)
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)
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)
GATAD1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
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
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
HADHB
5 reviews
1 green 1 red
Not set
Sources
  • Expert list
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
HOXD10
6 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type IIC, 613376
Tags
Red Red List (low evidence)
ITPR1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
JPH2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
JUP
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
KARS
7 reviews
1 green 3 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • 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
Red Red List (low evidence)
KCNA1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
KCNC3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
KIF1B
7 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • 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)
KRAS
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
L1CAM
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
LAMA4
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
LAMP2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
LAS1L
4 reviews
3 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
LDB3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MAP2K1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MAP2K2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MARS
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
Red Red List (low evidence)
MCM3AP
3 reviews
2 green
Not set
Sources
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
MED25
7 reviews
2 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Charcot Marie Tooth disease, type 2B2, 605589
  • Charcot Marie Tooth disease, type 2B2, 605589
Tags
Red Red List (low evidence)
MRE11
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
MTTP
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
MYBPC3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
MYH14
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • 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)
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
Not set
Sources
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
NEXN
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
NIPA1
6 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Spastic paraplegia 6, autosomal dominant
Tags
Red Red List (low evidence)
NRAS
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PDK3
7 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
  • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
Tags
Red Red List (low evidence)
PDLIM3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PKP2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PLN
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
PLP1
6 reviews
2 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
PMP2
3 reviews
2 green
Not set
Sources
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
PNPLA6
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
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 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
PTPN11
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RAF1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RBM20
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RIT1
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
RYR2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
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)
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)
SGCD
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
Tags
Red Red List (low evidence)
SIL1
5 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
SLC1A3
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
SLC52A1
5 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • 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
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
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
SPTBN2
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
SURF1
2 reviews
1 green
Not set
Sources
  • London North GLH
  • NHS GMS
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 Review Red
  • Expert list
  • 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 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
TWNK
6 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • Hereditary Neuropathies
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)
WARS
3 reviews
2 green
Not set
Sources
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
WASHC5
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
ZFYVE26
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
Tags
Red Red List (low evidence)
ZFYVE27
5 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
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