Hereditary Neuropathy - complex (Version 1.14)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 144 Entitiess
Green Green List (high evidence)	AAAS	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 Green List (high evidence)	ABCA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Tangier Disease (MONDO:0008783 MIM#205400) Tags
Green Green List (high evidence)	ABCD1	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 Green List (high evidence)	ABHD12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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 Green List (high evidence)	ACOX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	ADPRHL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Tags new gene name
Green Green List (high evidence)	AFG3L2	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 Green List (high evidence)	AGTPBP1	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 Green List (high evidence)	AGXT	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 Green List (high evidence)	AIFM1	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 Green List (high evidence)	ALDH18A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities Tags
Green Green List (high evidence)	AMACR	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 Green List (high evidence)	AP1S1	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 Green List (high evidence)	APOA1	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 Green List (high evidence)	APTX	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 Green List (high evidence)	ARL6IP1	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 Green List (high evidence)	ARSA	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 Green List (high evidence)	ASAH1	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 Green List (high evidence)	ASCC1	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 Green List (high evidence)	ATAD3A	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 Green List (high evidence)	BCKDHB	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 Green List (high evidence)	C12orf65	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 Green List (high evidence)	C19orf12	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 Green List (high evidence)	CANVAS STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green Green List (high evidence)	CD59	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 Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 10 dHMN/dSMA Tags
Green Green List (high evidence)	CNTNAP1	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 Green List (high evidence)	COA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital 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 Green List (high evidence)	COQ7	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 Green List (high evidence)	CPOX	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 Green List (high evidence)	CTDP1	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 Green List (high evidence)	CYP27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes HMSN Cholestanol storage disease Tags
Green Green List (high evidence)	CYP2U1	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 Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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 Green List (high evidence)	DARS2	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 Green List (high evidence)	DEGS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Tags
Green Green List (high evidence)	DGUOK	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 Green List (high evidence)	DHH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 Tags
Green Green List (high evidence)	DNAJC3	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 Green List (high evidence)	ERCC6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome, type B MIM#133540 Tags
Green Green List (high evidence)	ERCC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome, type A MIM#216400 Tags
Green Green List (high evidence)	ETFDH	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 Green List (high evidence)	EXOSC8	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 Green List (high evidence)	EXOSC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 1D, MIM# 618065 Tags
Green Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Tyrosinemia, type I, MIM# 276700 Tags treatable
Green Green List (high evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033 Tags
Green Green List (high evidence)	FXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Friedreich ataxia, MIM# 229300 Tags STR
Green Green List (high evidence)	GAN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM# 256850 Tags
Green Green List (high evidence)	GBA2	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 Green List (high evidence)	GBE1	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 Green List (high evidence)	GJC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green Green List (high evidence)	GLA	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 Green List (high evidence)	GSN	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 Green List (high evidence)	HADHA	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 Green List (high evidence)	HEXA	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 Green List (high evidence)	HEXB	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 Green List (high evidence)	HMBS	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 Green List (high evidence)	IARS2	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 Green List (high evidence)	KLC2	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 Green List (high evidence)	LYST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Chediak-Higashi syndrome MIM#214500 MONDO:0008963 Tags
Green Green List (high evidence)	MCM3AP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green Green List (high evidence)	MORC2	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 Green List (high evidence)	MTTP	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 Green List (high evidence)	MYH14	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 Green List (high evidence)	NAGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Kanzaki disease, MIM#609242 Tags
Green Green List (high evidence)	NARS	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 Green List (high evidence)	NEMF	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 Green List (high evidence)	NGLY1	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 Green List (high evidence)	NIID STR	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 Green List (high evidence)	NIPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 6 Tags
Green Green List (high evidence)	NTRK1	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 Green List (high evidence)	NUDT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy Tags
Green Green List (high evidence)	OPA1	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 Green List (high evidence)	OPA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Optic atrophy 3 MONDO:0008133 Tags
Green Green List (high evidence)	PDHA1	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 Green List (high evidence)	PDXK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Axonal polyneuropathy optic atrophy Tags
Green Green List (high evidence)	PDYN	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 Green List (high evidence)	PEX10	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 Green List (high evidence)	PEX12	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 Green List (high evidence)	PHYH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Refsum Disease MIM#266500 Tags
Green Green List (high evidence)	PLA2G16	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 Green List (high evidence)	PLA2G6	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 Green List (high evidence)	PMM2	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 Green List (high evidence)	PNKP	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 Green List (high evidence)	PNPLA6	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 Green List (high evidence)	POLG	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 Green List (high evidence)	POLR3B	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 Green List (high evidence)	PPOX	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 Green List (high evidence)	PRNP	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 Green List (high evidence)	PTRH2	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 Green List (high evidence)	SACS	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 Green List (high evidence)	SBF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4B3 , MIM#615284 MONDO:0014117 Tags
Green Green List (high evidence)	SCA4_ZFHX3_GGC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes spinocerebellar ataxia type 4 MONDO:0010847 Tags
Green Green List (high evidence)	SCYL1	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 Green List (high evidence)	SETX	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 Green List (high evidence)	SLC12A6	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 Green List (high evidence)	SLC25A19	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 Green List (high evidence)	SLC25A46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SLC52A2	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 Green List (high evidence)	SLC52A3	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 Green List (high evidence)	SLC5A6	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 Green List (high evidence)	SNAP29	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 Green List (high evidence)	SOX10	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 Green List (high evidence)	SPAST	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 Green List (high evidence)	SPTBN4	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 Green List (high evidence)	STUB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green Green List (high evidence)	SURF1	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 Green List (high evidence)	TECPR2	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 Green List (high evidence)	TRIP4	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 Green List (high evidence)	TTPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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 Green List (high evidence)	TTR	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 Green List (high evidence)	TUBB3	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 Green List (high evidence)	TWNK	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 Green List (high evidence)	TYMP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) HMSN Tags
Green Green List (high evidence)	UCHL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green Green List (high evidence)	XK	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 Green List (high evidence)	XRCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags
Green Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15 MIM#270700 Tags
Amber Amber List (moderate evidence)	ATM	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 Amber List (moderate evidence)	B4GALNT1	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 Amber List (moderate evidence)	BAG3	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 Amber List (moderate evidence)	CANVAS_ACAGG STR	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 Amber List (moderate evidence)	CCT5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HMSN Tags
Amber Amber List (moderate evidence)	COX10	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 Amber List (moderate evidence)	DCAF8	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 Amber List (moderate evidence)	DDHD1	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 Amber List (moderate evidence)	EMILIN1	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 Amber List (moderate evidence)	EXOSC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 1b dHMN/dSMA Tags
Amber Amber List (moderate evidence)	FAM126A	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 Amber List (moderate evidence)	FDX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900) Tags
Amber Amber List (moderate evidence)	GALC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Krabbe Disease MIM#245200 Tags
Amber Amber List (moderate evidence)	HADHB	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 Amber List (moderate evidence)	KARS	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 Amber List (moderate evidence)	MFF	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 Amber List (moderate evidence)	PLP1	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 Amber List (moderate evidence)	PSMC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Amber Amber List (moderate evidence)	RFC1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Tags STR
Amber Amber List (moderate evidence)	SGPL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Nephrotic syndrome, type 14 (MIM#617575) Tags
Amber Amber List (moderate evidence)	SUCLA2	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 Amber List (moderate evidence)	TDP1	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
Red Red List (low evidence)	AMPD2	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 Red List (low evidence)	GJB3	1 review 1 red	Not set	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy Tags
Red Red List (low evidence)	IFRD1	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 Red List (low evidence)	PEX7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Refsum disease Phytanic acid storage disease Tags

Hereditary Neuropathy - complex (Version 1.14)

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