Hereditary Neuropathy_CMT_IsolatedAndComplex (Version 2.39)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 263 Entitiess
Green List (high evidence)	AAAS Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Glucocorticoid deficiency with achalasia Achalasia-addisonianism-alacrimia syndrome, MIM# 231550 Tags
Green List (high evidence)	AARS Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	ABCA1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Tangier Disease (MONDO:0008783 MIM#205400) Tags
Green List (high evidence)	ABCD1 Hereditary Neuropathy - complex v1.19	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 Adrenomyeloneuropathy, adult (MIM#300100) Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance Tags
Green List (high evidence)	ABHD12 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia Neurodegeneration, childhood-onset, with cerebellar atrophy,612674 HMSN Tags
Green List (high evidence)	ACOX1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mitchell syndrome, MIM# 618960 Tags
Green List (high evidence)	ADPRHL2 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Tags new gene name
Green List (high evidence)	AFG3L2 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776 Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia Tags
Green List (high evidence)	AGTPBP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Tags
Green List (high evidence)	AGXT Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperoxaluria, primary, type 1, MIM#259900 Tags clinical trial treatable
Green List (high evidence)	AIFM1 Hereditary Neuropathy - complex v1.19	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 6 Cowchock syndrome HMSN Tags
Green List (high evidence)	ALDH18A1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities Tags
Green List (high evidence)	AMACR Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alpha-methylacyl-CoA racemase deficiency (MIM#614307) Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids Tags
Green List (high evidence)	AP1S1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes MEDNIK Syndrome (MONDO:0012251, MIM#609313) Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma Tags
Green List (high evidence)	APOA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Amyloidosis, 3 or more types 105200 Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy Tags
Green List (high evidence)	APTX Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920) Tags
Green List (high evidence)	ARL6IP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy Tags
Green List (high evidence)	ARSA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy, MIM# 250100 Severe late infantile form with mental retardation and severe course. Regression before 30 months adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy Tags
Green List (high evidence)	ASAH1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy dHMN/dSMA Tags
Green List (high evidence)	ASCC1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with congenital bone fractures 2 Tags
Green List (high evidence)	ATAD3A Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy Tags
Green List (high evidence)	ATL1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	ATL3 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	ATP1A1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	ATP7A Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, distal, X-linked 3, MIM# 300489 dHMN/dSMA Tags
Green List (high evidence)	BCKDHB Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy Tags treatable
Green List (high evidence)	BICD2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	BSCL2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	C12orf65 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 HMSN Tags new gene name
Green List (high evidence)	C19orf12 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs Tags
Green List (high evidence)	CADM3 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	CANVAS STR Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green List (high evidence)	CD59 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300 Tags
Green List (high evidence)	CHCHD10 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	CLP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 10 dHMN/dSMA Tags
Green List (high evidence)	CNTNAP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049 MIM#618186) Tags
Green List (high evidence)	COA7 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy Tags
Green List (high evidence)	COQ7 Hereditary Neuropathy - complex v1.19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402 Tags
Green List (high evidence)	COX20 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes sensory neuronopathy sensory neuron disease ganglionopathy Tags
Green List (high evidence)	COX6A1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	CPOX Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Coproporphyria, MIM#121300 Harderoporphyria, MIM#121300 Tags
Green List (high evidence)	CTDP1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168) Tags deep intronic founder
Green List (high evidence)	CYP27A1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Cholestanol storage disease Tags
Green List (high evidence)	CYP2U1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 56, autosomal recessive, MIM#615030 Tags
Green List (high evidence)	CYP7B1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV Tags
Green List (high evidence)	DARS2 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings Tags
Green List (high evidence)	DCTN1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	DEGS1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Tags
Green List (high evidence)	DGUOK Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy Tags
Green List (high evidence)	DHH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 Tags
Green List (high evidence)	DHX9 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	DNAJB2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	DNAJC3 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Tags
Green List (high evidence)	DNM2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	DNMT1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	DRP2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	DST Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653 MONDO:0013839 HSAN/SFN Tags
Green List (high evidence)	DYNC1H1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	EGR2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	ELP1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	ERCC6 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome, type B MIM#133540 Tags
Green List (high evidence)	ERCC8 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome, type A MIM#216400 Tags
Green List (high evidence)	ETFDH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 sensory neuropathy Tags treatable
Green List (high evidence)	EXOSC8 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dHMN/dSMA Pontocerebellar hypoplasia, type 1c, MIM# 616081 Tags
Green List (high evidence)	EXOSC9 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia, type 1D, MIM# 618065 Tags
Green List (high evidence)	FAH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Tyrosinemia, type I, MIM# 276700 Tags treatable
Green List (high evidence)	FBLN5 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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 List (high evidence)	FGD4 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	FICD Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 92, autosomal recessive, MIM# 620911 Tags
Green List (high evidence)	FIG4 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	FLVCR1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033 Tags
Green List (high evidence)	FXN Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Friedreich ataxia, MIM# 229300 Tags STR
Green List (high evidence)	GAN Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM# 256850 Tags
Green List (high evidence)	GARS Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	GBA2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy Tags
Green List (high evidence)	GBE1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body disease, adult form MIM#263570 Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI Tags
Green List (high evidence)	GBF1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	GDAP1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	GJB1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	GJC2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green List (high evidence)	GLA Hereditary Neuropathy - complex v1.19	1 review	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 Cardiomyopathy HSAN/SFN Fabry disease Tags
Green List (high evidence)	GNB4 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	GSN Hereditary Neuropathy - complex v1.19	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyloidosis, Finnish type MIM#105120 Tags
Green List (high evidence)	HADHA Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HARS Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	HEXA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described Tay-Sachs disease Tags
Green List (high evidence)	HEXB Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described Tay-Sachs disease Tags
Green List (high evidence)	HINT1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	HK1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	HMBS Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute intermittent MIM#176000 MONDO:0008294 Tags
Green List (high evidence)	HSPB1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	HSPB8 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	IARS2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Tags
Green List (high evidence)	IGHMBP2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	INF2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	ITPR3 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	JAG1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Peripheral neuropathy Tags
Green List (high evidence)	KIF1A Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	KIF5A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary Neuropathies HMSN Tags
Green List (high evidence)	KLC2 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Tags SV/CNV
Green List (high evidence)	LITAF Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	LRSAM1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	LYST Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Chediak-Higashi syndrome MIM#214500 MONDO:0008963 Tags
Green List (high evidence)	MCM3AP Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green List (high evidence)	MFN2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	MME Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital GeneReviews Phenotypes Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017 MONDO:0014866 Tags
Green List (high evidence)	MORC2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	MORC2 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Tags
Green List (high evidence)	MPV17 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	MPZ Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	MTMR2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	MTTP Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Abetalipoproteinemia (MIM#200100) Young onset Abetalipoproteinaemia hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy Tags treatable
Green List (high evidence)	MYH14 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369 Tags
Green List (high evidence)	NAGA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Kanzaki disease, MIM#609242 Tags
Green List (high evidence)	NARS Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092 Abnormal muscle tone Microcephaly Global developmental delay Intellectual disability Seizures Ataxia Abnormality of the face Demyelinating peripheral neuropathy Tags new gene name
Green List (high evidence)	NDC1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes triple-A syndrome MONDO:0009279 Tags
Green List (high evidence)	NDRG1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	NEFH Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	NEFL Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	NEMF Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099 Intellectual disability neuropathy Tags
Green List (high evidence)	NGF Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	NGLY1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273) Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy Tags
Green List (high evidence)	NIID STR Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green List (high evidence)	NIPA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 6 Tags
Green List (high evidence)	NTRK1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes hereditary sensory and autonomic neuropathy type 4 MONDO:0009746 Tags
Green List (high evidence)	NUDT2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy Tags
Green List (high evidence)	OPA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Optic atrophy plus syndrome (MIM#125250) Tags
Green List (high evidence)	OPA3 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Optic atrophy 3 MONDO:0008133 Tags
Green List (high evidence)	PDHA1 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170 Tags
Green List (high evidence)	PDK3 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905 HMSN Tags
Green List (high evidence)	PDXK Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Axonal polyneuropathy optic atrophy Tags
Green List (high evidence)	PDYN Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 23 (MIM#610245) Cerebellar ataxia, sensory-motor axonal neuropathy Spinocerebellar ataxia 23 Tags
Green List (high evidence)	PEX10 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described Tags
Green List (high evidence)	PEX12 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 HMSN Tags
Green List (high evidence)	PHYH Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Refsum Disease MIM#266500 Tags
Green List (high evidence)	PLA2G16 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green List (high evidence)	PLA2G6 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile neuroaxonal dystrophy 1 (MIM#256600) Neurodegeneration with brain iron accumulation 2B (MIM#610217) Tags
Green List (high evidence)	PLEKHG5 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	PMM2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy Tags
Green List (high evidence)	PMP22 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green 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 List (high evidence)	PNKP Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589) Ataxia-oculomotor apraxia 4 (MIM#616267) Tags
Green List (high evidence)	PNPLA6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Laurence-Moon Syndrome (LMS) MIM#245800 Spastic Paraplegia Type 39 MIM#612020 Tags
Green List (high evidence)	POLG Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Tags
Green List (high evidence)	POLR3B Hereditary Neuropathy - complex v1.19	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742 Tags
Green List (high evidence)	PPOX Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Porphyria variegata, MIM# 176200 Variegate porphyria, childhood-onset, MIM# 620483 Tags
Green List (high evidence)	PRDM12 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	PRNP Hereditary Neuropathy - complex v1.19	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Prion diseases peripheral neuropathy chronic diarrhea dementia Tags
Green List (high evidence)	PRPS1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	PRX Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	PTRH2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263) Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy Tags
Green List (high evidence)	RAB7A Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	REEP1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	RETREG1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	RFC1 Hereditary Neuropathy - complex v1.19	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Tags STR
Green List (high evidence)	RTN2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SACS Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charlevoix-Saguenay spastic ataxia (MONDO:0010041 MIM#270550) Tags SV/CNV
Green List (high evidence)	SARS Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Genetic peripheral neuropathy MONDO#0020127, SARS1-related Tags
Green List (high evidence)	SBF1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SBF1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Charcot-Marie-Tooth disease, type 4B3 , MIM#615284 MONDO:0014117 Tags
Green List (high evidence)	SBF2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SCA4_ZFHX3_GGC STR Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes spinocerebellar ataxia type 4 MONDO:0010847 Tags
Green List (high evidence)	SCN10A Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SCN11A Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SCN9A Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SCO2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SCYL1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719) acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744) Spinocerebellar ataxia, autosomal recessive 21 Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Green List (high evidence)	SEPT9 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SETX Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dHMN/dSMA Amyotrophic lateral sclerosis 4, juvenile MIM# 602433 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Tags
Green List (high evidence)	SH3TC2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SIGMAR1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SLC12A6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Andermann syndrome Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068 Tags
Green List (high evidence)	SLC12A6 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SLC25A19 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 Tags
Green List (high evidence)	SLC25A46 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green List (high evidence)	SLC52A2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867) Tags
Green List (high evidence)	SLC52A3 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brown-Vialetto-Van Laere syndrome 1 (MIM#211530) dHMN Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease Tags
Green List (high evidence)	SLC5A6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903 Tags
Green List (high evidence)	SLC5A7 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SMN1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SNAP29 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528) Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life Tags
Green List (high evidence)	SORD Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SOX10 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes PCWH Syndrome (MIM#609136 MONDO:0012198) Waardenburg syndrome, type 4C, 613266 Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 HMSN Tags
Green List (high evidence)	SPAST Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 4, autosomal dominant Spasticity Hereditary Neuropathies Tags
Green List (high evidence)	SPG11 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SPTAN1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SPTBN4 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green List (high evidence)	SPTLC1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	SPTLC2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	STUB1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green List (high evidence)	SURF1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leigh syndrome, due to COX IV deficiency, 256000 HMSN Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV Tags
Green List (high evidence)	SYT2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	TECPR2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 49, autosomal recessive HSAN/SFN Tags
Green List (high evidence)	TFG Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	TRIM2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	TRIP4 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Tags
Green List (high evidence)	TRPV4 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	TTPA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia with vitamin E deficiency Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa Tags
Green List (high evidence)	TTR Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyloidosis, hereditary, transthyretin-related MIM#105210 Cardiomyopathy Amyloidogenic transthyretin amyloidosis HSAN/SFN Tags
Green List (high evidence)	TUBB3 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Fibrosis of extraocular muscles, congenital, 3A (MIM#600638) Neuropathy Tags
Green List (high evidence)	TWNK Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome (MIM#616138) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286 Tags
Green List (high evidence)	TYMP Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) HMSN Tags
Green List (high evidence)	UBA1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	UCHL1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green List (high evidence)	VAPB Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	VCP Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	VRK1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	VWA1 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary motor neuropathy Tags
Green List (high evidence)	WNK1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (high evidence)	XK Hereditary Neuropathy - complex v1.19	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes McLeod syndrome with or without chronic granulomatous disease (MIM#300842) Tags
Green List (high evidence)	XRCC1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags
Green List (high evidence)	YARS Hereditary Neuropathy_CMT - isolated v1.51	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
Green List (high evidence)	ZFYVE26 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15 MIM#270700 Tags
Amber List (moderate evidence)	ARHGEF10 Hereditary Neuropathy_CMT - isolated v1.51	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 List (moderate evidence)	ARPC3 Hereditary Neuropathy_CMT - isolated v1.51	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease MONDO:0015626 Tags
Amber List (moderate evidence)	ATM Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Ataxia-telangiectasia, MIM#208900 Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein Ataxia-telangiectasia syndrome Tags
Amber List (moderate evidence)	B4GALNT1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 26, autosomal recessive (MIM#609195 MONDO:0012213) Tags
Amber List (moderate evidence)	BAG3 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Myopathy, myofibrillar, 6 (MIM#612954 MONDO:0013061) Tags
Amber List (moderate evidence)	C1orf194 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Charcot-Marie-Tooth disease, intermediate or demyelinating Tags
Amber List (moderate evidence)	CANVAS_ACAGG STR Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation Tags
Amber List (moderate evidence)	CCT5 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HMSN Tags
Amber List (moderate evidence)	COX10 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) Tags
Amber List (moderate evidence)	DCAF8 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Giant axonal neuropathy 2, autosomal dominant, 610100 HMSN Tags
Amber List (moderate evidence)	DDHD1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy Tags
Amber List (moderate evidence)	DGAT2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Amber Expert Review Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related Tags
Amber List (moderate evidence)	DHTKD1 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber 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 List (moderate evidence)	EMILIN1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuronopathy, distal hereditary motor, type X, MIM# 620080 Peripheral neuropathy aortic aneurysm Tags
Amber List (moderate evidence)	EXOSC3 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 1b dHMN/dSMA Tags
Amber List (moderate evidence)	FAM126A Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes HMSN Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV Leukodystrophy, hypomyelinating, 5, 610532 Tags
Amber List (moderate evidence)	FBXO38 Hereditary Neuropathy_CMT - isolated v1.51	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 List (moderate evidence)	FDX2 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900) Tags
Amber List (moderate evidence)	GALC Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Krabbe Disease MIM#245200 Tags
Amber List (moderate evidence)	HADHB Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300 Tags treatable
Amber List (moderate evidence)	KARS Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641 MONDO:0013338) Tags
Amber List (moderate evidence)	LMNA Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2B1 , MIM#605588 Tags
Amber List (moderate evidence)	MFF Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086 Tags
Amber List (moderate evidence)	MYO9B Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related Tags
Amber List (moderate evidence)	NAGLU Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 HSAN/SFN Tags
Amber List (moderate evidence)	PCK2 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Peripheral neuropathy (MONDO#0005244), PCK2-related Tags
Amber List (moderate evidence)	PLP1 Hereditary Neuropathy - complex v1.19	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pelizaeus-Merzbacher disease (MIM#312080) Tags
Amber List (moderate evidence)	PMP2 Hereditary Neuropathy_CMT - isolated v1.51	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 List (moderate evidence)	PSMC3 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Amber List (moderate evidence)	RBM7 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes SMA-like spinal motor neuropathy dHMN/dSMA Tags
Amber List (moderate evidence)	SGPL1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes RENI syndrome (MIM#617575) Tags
Amber List (moderate evidence)	SUCLA2 Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791 MIM#612073) ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy Tags
Amber List (moderate evidence)	TDP1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber List (moderate evidence)	UBA5 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypomyelinating neuropathy Tags
Amber List (moderate evidence)	WARS Hereditary Neuropathy_CMT - isolated v1.51	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 List (low evidence)	AMPD2 Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI Tags
Red List (low evidence)	BANF1 Hereditary Neuropathy_CMT - isolated v1.51	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 List (low evidence)	GJB3 Hereditary Neuropathy - complex v1.19	1 review 1 red	Not set	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy Tags
Red List (low evidence)	HSPB3 Hereditary Neuropathy_CMT - isolated v1.51	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 List (low evidence)	IFRD1 Hereditary Neuropathy - complex v1.19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) HMSN Tags refuted
Red List (low evidence)	IQGAP3 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hereditary neuropathy Tags
Red List (low evidence)	KIF1B Hereditary Neuropathy_CMT - isolated v1.51	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 List (low evidence)	KLHL13 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Tags
Red List (low evidence)	LAS1L Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Red Expert Review Phenotypes congenital lethal motor neuron disease Tags
Red List (low evidence)	MARS Hereditary Neuropathy_CMT - isolated v1.51	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 List (low evidence)	MED25 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 2B2 MIM#605589 Tags disputed
Red List (low evidence)	NRG1 Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Expert list Phenotypes Peripheral neuropathy MONDO:0005244 Tags
Red List (low evidence)	PEX7 Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Refsum disease Phytanic acid storage disease Tags
Red List (low evidence)	SH3BP4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Tags
Red List (low evidence)	TRPA1 Hereditary Neuropathy_CMT - isolated v1.51	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
No list	CAPRIN1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags

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