PanelApp
  1. Panels
  2. Hereditary Neuropathy_CMT_IsolatedAndComplex
Description
Superpanel of isolated and complex hereditary neuropathy gene panels, containing genes that cause the following forms of hereditary neuropathies: hereditary motor/sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN) / distal spinal muscular atrophy (dSMA), hereditary sensory and autonomic neuropathy (HSAN) / small fibre neuropathy (SFN).

271 Entities

270 reviewed, 222 green

List Entity Reviews Mode of inheritance Details
271 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)
AARS
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2N, 613287
  • HMSN, dHMN/dSMA
Tags
Green Green List (high evidence)
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
  • 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 Green List (high evidence)
ACOX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitchell syndrome, MIM# 618960
Tags
Green Green List (high evidence)
ADPRHL2
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 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
  • Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650
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
  • Expert Review Green
  • 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)
ARHGAP19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Motor Peripheral Neuropathy
  • MONDO:0002316
  • ARHGAP19 related
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)
ATL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory, type ID , MIM#613708
  • MONDO:0013381
Tags
Green Green List (high evidence)
ATL3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary sensory neuropathy type IF
  • HSAN/SFN
Tags
Green Green List (high evidence)
ATP1A1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036
  • MONDO:0054833
Tags
Green Green List (high evidence)
ATP7A
4 reviews
3 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, distal, X-linked 3, MIM# 300489
  • dHMN/dSMA
Tags
Green Green List (high evidence)
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)
BICD2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290
  • MONDO:0014121
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
  • dHMN/dSMA
Tags
Green Green List (high evidence)
BSCL2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, distal hereditary motor, type VC, MIM# 619112
Tags
Green Green List (high evidence)
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)
CADM3
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Tags
Green Green List (high evidence)
CAPRIN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood Dementia
  • Myoclonus-Ataxia
  • Sensorimotor Neuropathy
  • cerebellar atrophy
  • cortical atrophy
Tags
Green Green List (high evidence)
CASP8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Tags
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)
CHCHD10
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, Jokela type: 615048
  • CMT2
  • dHMN/dSMA
Tags
  • founder
Green Green List (high evidence)
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
  • 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 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)
COX18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial disease (MONDO:0044970), COX18-related
Tags
Green Green List (high evidence)
COX20
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • sensory neuronopathy
  • sensory neuron disease
  • ganglionopathy
Tags
Green Green List (high evidence)
COX6A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, recessive intermediate D, 616039
  • MONDO:0014467
  • HMSN
Tags
Green Green List (high evidence)
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
  • Expert Review Green
  • 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
  • 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 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)
DCTN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neuronopathy, distal hereditary motor, type 7B, MONDO:0011879
Tags
Green Green List (high evidence)
DDHD1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Hereditary spastic paraplegia 28, MONDO:0012256
Tags
Green Green List (high evidence)
DEGS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
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), MIM# 251880
  • Portal hypertension, noncirrhotic, 1, MIM# 617068
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Tags
Green Green List (high evidence)
DHH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766
Tags
Green Green List (high evidence)
DHX9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related
Tags
Green Green List (high evidence)
DNAJB2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Tags
Green Green List (high evidence)
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)
DNM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482
  • Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
  • MONDO:0011674
Tags
Green Green List (high evidence)
DNMT1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • ClinGen
  • Expert Review Green
Phenotypes
  • Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584
Tags
Green Green List (high evidence)
DRP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth, intermediate X-linked
  • HMSN
Tags
Green Green List (high evidence)
DST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Literature
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653
  • MONDO:0013839
  • HSAN/SFN
Tags
Green Green List (high evidence)
DYNC1H1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Tags
Green Green List (high evidence)
EGR2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 1D 607678 AD
  • Dejerine-Sottas disease 145900 AD, AR
  • Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Tags
Green Green List (high evidence)
ELP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dysautonomia, familial, 223900
  • Riley-Day syndrome MONDO:0009131
  • Hereditary sensory and autonomic neuropathy 3
  • HSAN/SFN
Tags
Green Green List (high evidence)
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 Green
  • Expert Review
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)
FBLN5
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 Green List (high evidence)
FGD4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 4H, 609311
  • MONDO:0012250
  • HMSN
Tags
Green Green List (high evidence)
FICD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 92, autosomal recessive, MIM# 620911
Tags
Green Green List (high evidence)
FIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J, MIM# 611228
  • MONDO:0012640
  • HMSN
Tags
Green Green List (high evidence)
FLVCR1
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 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)
FXN_FRDA_GAA
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
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)
GARS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Spinal muscular atrophy, infantile, James type, MIM# 619042
  • Neuropathy, distal hereditary motor, type V, 600794
  • Charcot Marie Tooth disease, type 2D, 601472
Tags
  • new gene name
Green Green List (high evidence)
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)
GBF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483
  • Axonal Neuropathy
Tags
Green Green List (high evidence)
GDAP1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706
  • Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340
  • Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Tags
Green Green List (high evidence)
GJB1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800
  • MONDO:0010549
  • HMSN
Tags
Green Green List (high evidence)
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)
GNB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185
  • MONDO:0014074
  • HMSN
Tags
Green Green List (high evidence)
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)
HARS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625
  • MONDO:0014711
  • HMSN
Tags
  • new gene name
Green Green List (high evidence)
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)
HINT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200
  • Gamstorp-Wohlfart syndrome, MONDO:0007646
  • HMSN, dHMN/dSMA
Tags
Green Green List (high evidence)
HK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Neuropathy, hereditary motor and sensory, Russe type, 605285
Tags
  • 5'UTR
  • founder
Green Green List (high evidence)
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)
HSPB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2F, 606595
  • MONDO:0011687
  • HMSN, dHMN/dSMA
  • Neuropathy, distal hereditary motor, type IIB, 608634
  • MONDO:0012080
Tags
Green Green List (high evidence)
HSPB8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Neuropathy, distal hereditary motor, type IIA, 158590
  • Charcot Marie Tooth disease, axonal, type 2L, 608673
Tags
Green Green List (high evidence)
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)
IGHMBP2
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 Green List (high evidence)
INF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate E, 614455
  • HMSN
Tags
Green Green List (high evidence)
ITPR3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
  • Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254
Tags
Green Green List (high evidence)
JAG1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peripheral neuropathy
Tags
Green Green List (high evidence)
KIF1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory, type IIC, 614213
Tags
Green Green List (high evidence)
KIF5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary Neuropathies
  • HMSN
Tags
Green Green List (high evidence)
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)
LITAF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 1C, MIM# 601098
  • MONDO:0010995
Tags
Green Green List (high evidence)
LRSAM1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
  • MONDO:0013753
  • HMSN
Tags
Green Green List (high evidence)
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Tags
Green Green List (high evidence)
MFN2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2A 609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087
  • Hereditary motor and sensory neuropathy VIA, MIM# 601152
Tags
Green Green List (high evidence)
MME
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017
  • MONDO:0014866
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)
MORC2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688
  • MONDO:0014736
Tags
Green Green List (high evidence)
MPV17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Tags
Green Green List (high evidence)
MPZ
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate D, 60779
  • Neuropathy, congenital hypomyelinating, 605253
  • Charcot Marie Tooth disease, type 2J, 607736
  • Dejerine Sottas disease, 145900
  • Charcot Marie Tooth disease, type 1B, 118200
  • Charcot Marie Tooth disease, type 2I, 607677
  • HMSN
Tags
Green Green List (high evidence)
MTMR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B1, 601382
  • HMSN
  • MONDO:0011066
Tags
Green Green List (high evidence)
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary peripheral neuropathy, MONDO:0020127, NARS-related
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)
NDC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328
Tags
Green Green List (high evidence)
NDRG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, type 4D, 601455
  • MONDO:0011085
Tags
  • founder
Green Green List (high evidence)
NEFH
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
  • HMSN
Tags
Green Green List (high evidence)
NEFL
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 2E, 607684
  • Charcot-Marie-Tooth disease, dominant intermediate G, 617882
  • HMSN
  • Charcot Marie Tooth disease, type 1F, 607734
Tags
Green Green List (high evidence)
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)
NGF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654
  • MONDO:0012092
Tags
Green Green List (high evidence)
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)
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)
NOTCH2NLC_NIID_GGC
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)
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)
PDK3
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905
  • HMSN
Tags
Green Green List (high evidence)
PDXK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • 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)
PLEKHG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related
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)
PMP22
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 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)
PRDM12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
  • MONDO:0014662
  • HSAN/SFN
Tags
Green Green List (high evidence)
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)
PRPS1
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, X linked recessive, 5, 311070
  • HMSN
Tags
Green Green List (high evidence)
PRX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease type 4 MONDO:0018995
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)
RAB7A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, MIM# 600882
  • MONDO:0010949
Tags
Green Green List (high evidence)
RCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Infection-induced acute-onset axonal neuropathy, MIM# 621333
Tags
Green Green List (high evidence)
REEP1
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011
  • Neuronopathy, distal hereditary motor, type VB MIM#614751
  • Spastic paraplegia 31, autosomal dominant MIM#610250
Tags
Green Green List (high evidence)
RETREG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115
  • HSAN/SFN
Tags
Green Green List (high evidence)
RFC1
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 Green List (high evidence)
RFC1_CANVAS_ANNGN
STR
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 Green List (high evidence)
RFC1_CANVAS_ANNGN
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044720
Tags
Green Green List (high evidence)
RTN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Tags
Green Green List (high evidence)
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)
SARS
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 Green List (high evidence)
SBF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B3 , MIM#615284
  • MONDO:0014117
Tags
Green Green List (high evidence)
SBF1
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 Green List (high evidence)
SBF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, type 4B2, MIM#604563
Tags
Green Green List (high evidence)
SCN10A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Episodic pain syndrome, familial, 2, 615551
Tags
Green Green List (high evidence)
SCN11A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
  • MONDO:0014244
Tags
Green Green List (high evidence)
SCN9A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Erythermalgia, primary, MIM# 133020
  • Insensitivity to pain, congenital, MIM# 243000
  • Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000
  • Paroxysmal extreme pain disorder, MIM# 167400
  • Small fiber neuropathy,MIM# 133020
Tags
Green Green List (high evidence)
SCO2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850
Tags
Green Green List (high evidence)
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)
SEPT9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Amyotrophy, hereditary neuralgic, MIM# 162100
  • HMSN
Tags
  • 5'UTR
  • founder
  • new gene name
  • SV/CNV
Green Green List (high evidence)
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)
SH3TC2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, type 4C, 601596
  • Mononeuropathy of the median nerve, mild, 613353
Tags
Green Green List (high evidence)
SIGMAR1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ?Distal spinal muscular atrophy, autosomal recessive 2
  • dHMN/dSMA
  • Distal hereditary motor neuropathy of Jerash type (HMNJ)
Tags
Green Green List (high evidence)
SLC12A6
1 review
1 green 		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)
SLC12A6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068)
Tags
Green Green List (high evidence)
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 Review Green
  • Expert list
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)
SLC5A7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580
  • MONDO:0008024
Tags
Green Green List (high evidence)
SMN1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy-1, MIM# 253300
  • Spinal muscular atrophy-2, MIM# 253550
  • Spinal muscular atrophy-3, MIM# 253400
  • Spinal muscular atrophy-4, MIM# 271150
Tags
  • SV/CNV
Green Green List (high evidence)
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)
SORD
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • isolated hereditary neuropathy
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912
Tags
Green Green List (high evidence)
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)
SPG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Hereditary Neuropathies
  • axonal Charcot-Marie-Tooth disease type 2X
  • MONDO:0014726
Tags
Green Green List (high evidence)
SPTAN1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Tags
Green Green List (high evidence)
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)
SPTLC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Juvenile amyotrophic lateral sclerosis-27, MIM#620285
  • HSAN/SFN
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory and autonomic, type IA, 162400
Tags
Green Green List (high evidence)
SPTLC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
  • MONDO:0013337
  • HSAN/SFN
Tags
Green Green List (high evidence)
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)
SYT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic
  • HMSN
Tags
Green Green List (high evidence)
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)
TFG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484
Tags
Green Green List (high evidence)
TRIM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2R, MIM# 615490
  • MONDO:0014208
  • HMSN
Tags
Green Green List (high evidence)
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)
TRPV4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Hereditary motor and sensory neuropathy, type IIc, MIM# 606071
  • Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Tags
Green Green List (high evidence)
TTC19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, MIM#615157
Tags
Green Green List (high evidence)
TTPA
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 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)
UBA1
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • dHMN/dSMA
  • Spinal muscular atrophy, X-linked 2, MIM# 301830
Tags
Green Green List (high evidence)
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)
VAPB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Adult proximal spinal muscular atrophy, autosomal dominant
  • dHMN/dSMA
  • Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980
Tags
Green Green List (high evidence)
VCP
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Tags
Green Green List (high evidence)
VRK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Tags
Green Green List (high evidence)
VWA1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary motor neuropathy
Tags
Green Green List (high evidence)
WNK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HSAN/SFN
  • Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300
  • MONDO:0024309
Tags
Green Green List (high evidence)
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 Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Tags
Green Green List (high evidence)
YARS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323
  • MONDO:0012012
Tags
Green Green List (high evidence)
ZFHX3_SCA4_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)
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)
ARHGEF10
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Slowed nerve conduction velocity, AD, 608236
  • HMSN
Tags
Amber Amber List (moderate evidence)
ARPC3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease MONDO:0015626
Tags
Amber Amber List (moderate evidence)
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
2 reviews
 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)
C1orf194
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, intermediate or demyelinating
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)
DGAT2
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 Amber List (moderate evidence)
DHTKD1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012
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)
FBXO38
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type IID, 615575
  • dHMN/dSMA
Tags
Amber Amber List (moderate evidence)
FDX2
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 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)
LMNA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Tags
Amber Amber List (moderate evidence)
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)
MYO9B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
Tags
Amber Amber List (moderate evidence)
NAGLU
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
  • HSAN/SFN
Tags
Amber Amber List (moderate evidence)
PCK2
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peripheral neuropathy (MONDO#0005244), PCK2-related
Tags
Amber Amber List (moderate evidence)
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)
PMP2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Tags
Amber Amber List (moderate evidence)
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)
RBM7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • SMA-like spinal motor neuropathy
  • dHMN/dSMA
Tags
Amber Amber List (moderate evidence)
SGPL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • RENI syndrome (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
Amber Amber List (moderate evidence)
UBA5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypomyelinating neuropathy
Tags
Amber Amber List (moderate evidence)
WARS
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type IX, MIM#617721
Tags
Red Red List (low evidence)
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)
BANF1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
Tags
Red Red List (low evidence)
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)
HSPB3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • ?Neuronopathy, distal hereditary motor, type IIC, 613376
Tags
Red Red List (low evidence)
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)
IQGAP3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary neuropathy
Tags
Red Red List (low evidence)
KIF1B
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 2A1, 118210
  • HMSN
Tags
Red Red List (low evidence)
KLHL13
2 reviews
2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert Review
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
Tags
Red Red List (low evidence)
LAS1L
2 reviews
1 green 1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert Review
Phenotypes
  • congenital lethal motor neuron disease
Tags
Red Red List (low evidence)
MARS
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Tags
Red Red List (low evidence)
MED25
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B2 MIM#605589
Tags
  • disputed
Red Red List (low evidence)
NAMPT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • hereditary motor and sensory neuropathy MONDO:0015358
Tags
Red Red List (low evidence)
NRG1
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
  • Expert list
Phenotypes
  • Peripheral neuropathy MONDO:0005244
Tags
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
Red Red List (low evidence)
SH3BP4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
Tags
Red Red List (low evidence)
TRPA1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Episodic pain syndrome, familial, 1
  • HSAN/SFN
Tags

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