Hereditary Neuropathy_CMT - isolated (Version 1.52)

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.

Panel Activity

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
Filter Entities 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

Major version comments

2021-05-29 10:33 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Hereditary Neuropathy_CMT - isolated (Version 1.52)

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