Description
This panel contains genes that cause the following isolated forms of hereditary neuropathies: hereditary motor/sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN) / distal spinal muscular atrophy (dSMA), hereditary sensory and autonomic neuropathy (HSAN) / small fibre neuropathy (SFN). This panel was developed and is maintained by RMH and is a consensus panel used by VCGS.

It contains the CMT panel originally developed for the Melbourne Genomics CMT flagship (2014-16).

This panel has been compared against the Genomics England PanelApp 'Hereditary Neuropathy not PMP22 CNV' panel, and all discrepancies have been resolved, with reciprocal feedback provided to Genomics England (02/04/2020).

Please note this panel does not include genes that cause more complex neurological phenotypes, metabolic and syndromic disorders where neuropathies are a feature. For individuals where additional features are present, and for those early in the diagnostic trajectory, consider using the  'Hereditary Neuropathy_CMT_IsolatedAndComplex' superpanel, which includes complex disorders.

25 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Eleanor Williams (Genomics England)

  • Arina Puzriakova (Genomics England)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Anna Ritchie (Victorian Clinical Genetics Services)

  • Achchuthan Shanmugasundram (Genomics England)

  • Hazel Phillimore (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

117 Entities

117 reviewed, 92 green

List Entity Reviews Mode of inheritance Details
117 Entitiess
Green Green List (high evidence)
AARS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2N, 613287
  • HMSN, dHMN/dSMA
Tags
Green Green List (high evidence)
ATL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory, type ID , MIM#613708
  • MONDO:0013381
Tags
Green Green List (high evidence)
ATL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary sensory neuropathy type IF
  • HSAN/SFN
Tags
Green Green List (high evidence)
ATP1A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036
  • MONDO:0054833
Tags
Green Green List (high evidence)
ATP7A
4 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, distal, X-linked 3, MIM# 300489
  • dHMN/dSMA
Tags
Green Green List (high evidence)
BICD2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290
  • MONDO:0014121
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
  • dHMN/dSMA
Tags
Green Green List (high evidence)
BSCL2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, distal hereditary motor, type VC, MIM# 619112
Tags
Green Green List (high evidence)
CADM3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Tags
Green Green List (high evidence)
CHCHD10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, Jokela type: 615048
  • CMT2
  • dHMN/dSMA
Tags
  • founder
Green Green List (high evidence)
COX20
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • sensory neuronopathy
  • sensory neuron disease
  • ganglionopathy
Tags
Green Green List (high evidence)
COX6A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, recessive intermediate D, 616039
  • MONDO:0014467
  • HMSN
Tags
Green Green List (high evidence)
DCTN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641
  • MONDO:0011879
Tags
Green Green List (high evidence)
DHX9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related
Tags
Green Green List (high evidence)
DNAJB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Tags
Green Green List (high evidence)
DNM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482
  • Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
  • MONDO:0011674
Tags
Green Green List (high evidence)
DNMT1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory, type IE, 614116
  • Dementia, Deafness, and Sensory Neuropathy
  • HSAN/SFN
Tags
Green Green List (high evidence)
DRP2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth, intermediate X-linked
  • HMSN
Tags
Green Green List (high evidence)
DST
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653
  • MONDO:0013839
  • HSAN/SFN
Tags
Green Green List (high evidence)
DYNC1H1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Tags
Green Green List (high evidence)
EGR2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 1D 607678 AD
  • Dejerine-Sottas disease 145900 AD, AR
  • Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Tags
Green Green List (high evidence)
ELP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dysautonomia, familial, 223900
  • Riley-Day syndrome MONDO:0009131
  • Hereditary sensory and autonomic neuropathy 3
  • HSAN/SFN
Tags
Green Green List (high evidence)
FBLN5
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • HMSN
  • Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
Tags
Green Green List (high evidence)
FGD4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 4H, 609311
  • MONDO:0012250
  • HMSN
Tags
Green Green List (high evidence)
FICD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 92, autosomal recessive, MIM# 620911
Tags
Green Green List (high evidence)
FIG4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J, MIM# 611228
  • MONDO:0012640
  • HMSN
Tags
Green Green List (high evidence)
GARS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Spinal muscular atrophy, infantile, James type, MIM# 619042
  • Neuropathy, distal hereditary motor, type V, 600794
  • Charcot Marie Tooth disease, type 2D, 601472
Tags
  • new gene name
Green Green List (high evidence)
GBF1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483
  • Axonal Neuropathy
Tags
Green Green List (high evidence)
GDAP1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706
  • Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340
  • Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Tags
Green Green List (high evidence)
GJB1
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 Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800
  • MONDO:0010549
  • HMSN
Tags
Green Green List (high evidence)
GNB4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185
  • MONDO:0014074
  • HMSN
Tags
Green Green List (high evidence)
HARS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625
  • MONDO:0014711
  • HMSN
Tags
  • new gene name
Green Green List (high evidence)
HINT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200
  • Gamstorp-Wohlfart syndrome, MONDO:0007646
  • HMSN, dHMN/dSMA
Tags
Green Green List (high evidence)
HK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Neuropathy, hereditary motor and sensory, Russe type, 605285
Tags
  • 5'UTR
  • founder
Green Green List (high evidence)
HSPB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2F, 606595
  • MONDO:0011687
  • HMSN, dHMN/dSMA
  • Neuropathy, distal hereditary motor, type IIB, 608634
  • MONDO:0012080
Tags
Green Green List (high evidence)
HSPB8
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Neuropathy, distal hereditary motor, type IIA, 158590
  • Charcot Marie Tooth disease, axonal, type 2L, 608673
Tags
Green Green List (high evidence)
IGHMBP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • HMSN, dHMN/dSMA
  • Charcot-Marie-Tooth disease, axonal, type 2S 616155
  • Neuronopathy, distal hereditary motor, type VI, 604320
Tags
Green Green List (high evidence)
INF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate E, 614455
  • HMSN
Tags
Green Green List (high evidence)
ITPR3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Tags
Green Green List (high evidence)
JAG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peripheral neuropathy
Tags
Green Green List (high evidence)
KIF1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory, type IIC, 614213
Tags
Green Green List (high evidence)
KIF5A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary Neuropathies
  • HMSN
Tags
Green Green List (high evidence)
LITAF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 1C, MIM# 601098
  • MONDO:0010995
Tags
Green Green List (high evidence)
LRSAM1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
  • MONDO:0013753
  • HMSN
Tags
Green Green List (high evidence)
MFN2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2A 609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087
  • Hereditary motor and sensory neuropathy VIA, MIM# 601152
Tags
Green Green List (high evidence)
MME
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017
  • MONDO:0014866
Tags
Green Green List (high evidence)
MORC2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688
  • MONDO:0014736
Tags
Green Green List (high evidence)
MPV17
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Tags
Green Green List (high evidence)
MPZ
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate D, 60779
  • Neuropathy, congenital hypomyelinating, 605253
  • Charcot Marie Tooth disease, type 2J, 607736
  • Dejerine Sottas disease, 145900
  • Charcot Marie Tooth disease, type 1B, 118200
  • Charcot Marie Tooth disease, type 2I, 607677
  • HMSN
Tags
Green Green List (high evidence)
MTMR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B1, 601382
  • HMSN
  • MONDO:0011066
Tags
Green Green List (high evidence)
NDRG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, type 4D, 601455
  • MONDO:0011085
Tags
  • founder
Green Green List (high evidence)
NEFH
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
  • HMSN
Tags
Green Green List (high evidence)
NEFL
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 2E, 607684
  • Charcot-Marie-Tooth disease, dominant intermediate G, 617882
  • HMSN
  • Charcot Marie Tooth disease, type 1F, 607734
Tags
Green Green List (high evidence)
NGF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654
  • MONDO:0012092
Tags
Green Green List (high evidence)
PDK3
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 list
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905
  • HMSN
Tags
Green Green List (high evidence)
PLEKHG5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376
  • Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Tags
Green Green List (high evidence)
PMP22
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot Marie Tooth disease, type 1A, 118220
  • Roussy Levy syndrome, 180800
  • Neuropathy, inflammatory demyelinating, 139393
  • Neuropathy, recurrent, with pressure palsies, 162500
  • Charcot Marie Tooth disease, type 1E, 118300
  • Dejerine Sottas disease, 145900
  • HMSN
Tags
  • SV/CNV
Green Green List (high evidence)
PRDM12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
  • MONDO:0014662
  • HSAN/SFN
Tags
Green Green List (high evidence)
PRPS1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, X linked recessive, 5, 311070
  • HMSN
Tags
Green Green List (high evidence)
PRX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dejerine Sottas disease, autosomal recessive, 145900
  • Charcot Marie Tooth disease, type 4F, 614895
  • HMSN
Tags
Green Green List (high evidence)
RAB7A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, MIM# 600882
  • MONDO:0010949
Tags
Green Green List (high evidence)
REEP1
2 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011
  • Neuronopathy, distal hereditary motor, type VB MIM#614751
  • Spastic paraplegia 31, autosomal dominant MIM#610250
Tags
Green Green List (high evidence)
RETREG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115
  • HSAN/SFN
Tags
Green Green List (high evidence)
RTN2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Tags
Green Green List (high evidence)
SARS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Genetic peripheral neuropathy MONDO#0020127, SARS1-related
Tags
Green Green List (high evidence)
SBF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B3 , MIM#615284
  • MONDO:0014117
Tags
Green Green List (high evidence)
SBF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, type 4B2, MIM#604563
Tags
Green Green List (high evidence)
SCN10A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Episodic pain syndrome, familial, 2, 615551
Tags
Green Green List (high evidence)
SCN11A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
  • MONDO:0014244
Tags
Green Green List (high evidence)
SCN9A
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Erythermalgia, primary, MIM# 133020
  • Insensitivity to pain, congenital, MIM# 243000
  • Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000
  • Paroxysmal extreme pain disorder, MIM# 167400
  • Small fiber neuropathy,MIM# 133020
Tags
Green Green List (high evidence)
SCO2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850
Tags
Green Green List (high evidence)
SEPT9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Amyotrophy, hereditary neuralgic, MIM# 162100
  • HMSN
Tags
  • 5'UTR
  • founder
  • new gene name
  • SV/CNV
Green Green List (high evidence)
SH3TC2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, type 4C, 601596
  • Mononeuropathy of the median nerve, mild, 613353
Tags
Green Green List (high evidence)
SIGMAR1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ?Distal spinal muscular atrophy, autosomal recessive 2
  • dHMN/dSMA
  • Distal hereditary motor neuropathy of Jerash type (HMNJ)
Tags
Green Green List (high evidence)
SLC12A6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068)
Tags
Green Green List (high evidence)
SLC5A7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580
  • MONDO:0008024
Tags
Green Green List (high evidence)
SMN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy-1, MIM# 253300
  • Spinal muscular atrophy-2, MIM# 253550
  • Spinal muscular atrophy-3, MIM# 253400
  • Spinal muscular atrophy-4, MIM# 271150
Tags
  • SV/CNV
Green Green List (high evidence)
SORD
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • isolated hereditary neuropathy
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912
Tags
Green Green List (high evidence)
SPG11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Hereditary Neuropathies
  • axonal Charcot-Marie-Tooth disease type 2X
  • MONDO:0014726
Tags
Green Green List (high evidence)
SPTAN1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Tags
Green Green List (high evidence)
SPTLC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Juvenile amyotrophic lateral sclerosis-27, MIM#620285
  • HSAN/SFN
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory and autonomic, type IA, 162400
Tags
Green Green List (high evidence)
SPTLC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
  • MONDO:0013337
  • HSAN/SFN
Tags
Green Green List (high evidence)
SYT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic
  • HMSN
Tags
Green Green List (high evidence)
TFG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484
Tags
Green Green List (high evidence)
TRIM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2R, MIM# 615490
  • MONDO:0014208
  • HMSN
Tags
Green Green List (high evidence)
TRPV4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Hereditary motor and sensory neuropathy, type IIc, MIM# 606071
  • Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Tags
Green Green List (high evidence)
UBA1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • dHMN/dSMA
  • Spinal muscular atrophy, X-linked 2, MIM# 301830
Tags
Green Green List (high evidence)
VAPB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Adult proximal spinal muscular atrophy, autosomal dominant
  • dHMN/dSMA
  • Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980
Tags
Green Green List (high evidence)
VCP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Tags
Green Green List (high evidence)
VRK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Tags
Green Green List (high evidence)
VWA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary motor neuropathy
Tags
Green Green List (high evidence)
WNK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300
  • MONDO:0024309
Tags
Green Green List (high evidence)
YARS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323
  • MONDO:0012012
Tags
Amber Amber List (moderate evidence)
ARHGEF10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Slowed nerve conduction velocity, AD, 608236
  • HMSN
Tags
Amber Amber List (moderate evidence)
ARPC3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease MONDO:0015626
Tags
Amber Amber List (moderate evidence)
C1orf194
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, intermediate or demyelinating
Tags
Amber Amber List (moderate evidence)
DGAT2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related
Tags
Amber Amber List (moderate evidence)
DHTKD1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, axonal, type 2Q, 615025
  • 2 aminoadipic 2 oxoadipic aciduria, 204750
Tags
Amber Amber List (moderate evidence)
FBXO38
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type IID, 615575
  • dHMN/dSMA
Tags
Amber Amber List (moderate evidence)
LMNA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Tags
Amber Amber List (moderate evidence)
MYO9B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
Tags
Amber Amber List (moderate evidence)
NAGLU
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
  • HSAN/SFN
Tags
Amber Amber List (moderate evidence)
PCK2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peripheral neuropathy (MONDO#0005244), PCK2-related
Tags
Amber Amber List (moderate evidence)
PMP2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Tags
Amber Amber List (moderate evidence)
RBM7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • SMA-like spinal motor neuropathy
  • dHMN/dSMA
Tags
Amber Amber List (moderate evidence)
UBA5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypomyelinating neuropathy
Tags
Amber Amber List (moderate evidence)
WARS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type IX, MIM#617721
Tags
Red Red List (low evidence)
BANF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
Tags
Red Red List (low evidence)
HSPB3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • ?Neuronopathy, distal hereditary motor, type IIC, 613376
Tags
Red Red List (low evidence)
IQGAP3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary neuropathy
Tags
Red Red List (low evidence)
KIF1B
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 2A1, 118210
  • HMSN
Tags
Red Red List (low evidence)
KLHL13
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
Tags
Red Red List (low evidence)
LAS1L
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • congenital lethal motor neuron disease
Tags
Red Red List (low evidence)
MARS
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Tags
Red Red List (low evidence)
MED25
3 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B2 MIM#605589
Tags
  • disputed
Red Red List (low evidence)
NRG1
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Red
Phenotypes
  • Peripheral neuropathy MONDO:0005244
Tags
Red Red List (low evidence)
SH3BP4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
Tags
Red Red List (low evidence)
TRPA1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Episodic pain syndrome, familial, 1
  • HSAN/SFN
Tags

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