PanelApp (staging)
  1. Panels
  2. Neuromuscular Superpanel
Description
This is a broad superpanel of  genes associated with neuromuscular conditions.

1361 Entities

1361 reviewed, 1028 green

List Entity Reviews Mode of inheritance Details
1361 Entitiess
Green Green List (high evidence)
AAAS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome MIM#231550
Tags
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)
AAAS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Triple A syndrome, 231550
  • Achalasia-addisonianism-alacrimia syndrome, 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)
AARS2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation deficiency 8 MIM#614096
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)
ABCB7
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anemia, sideroblastic, with ataxia
  • Sideroblastic Anemia and Ataxia
  • Anemia, sideroblast with ataxia, 300135
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)
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
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • spastic paraparesis
  • Hereditary spastic paraplegia
  • Adrenoleukodystrophy, 300100
  • VLCFA accumulation
  • adrenal failure
Tags
Green Green List (high evidence)
ABCD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adrenoleukodystrophy, MIM# 300100
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
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Adrenoleukodystrophy
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)
ABHD12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Tags
Green Green List (high evidence)
ABHD12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Tags
Green Green List (high evidence)
ABHD16A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 86, autosomal recessive, MIM# 619735
  • Intellectual Disability
  • Corpus callosum abnormalities
Tags
Green Green List (high evidence)
ABHD5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dorfman-Chanarin disease MONDO:0010155
Tags
Green Green List (high evidence)
ACAD9
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Tags
  • treatable
Green Green List (high evidence)
ACADM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
  • Rhabdomyolysis
Tags
  • treatable
Green Green List (high evidence)
ACADVL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • VLCAD deficiency 201475
Tags
  • treatable
Green Green List (high evidence)
ACBD6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785
Tags
Green Green List (high evidence)
ACO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Infantile cerebellar-retinal degeneration, MIM#614559
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)
ACTA1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800
Tags
Green Green List (high evidence)
ACTA1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, scapulohumeroperoneal 616852
Tags
Green Green List (high evidence)
ACTA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
  • Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Tags
Green Green List (high evidence)
ACTG2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Visceral myopathy, 155310
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Tags
Green Green List (high evidence)
ACTN2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, distal, 6, adult onset MIM#618655
Tags
Green Green List (high evidence)
ACTN2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Expert Review Amber
  • Expert list
Phenotypes
  • Congenital Myopathy 8 (MIM#618654
  • MONDO: 0032852)
Tags
Green Green List (high evidence)
ADAR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aicardi-Goutieres syndrome 6, 615010 autosomal recessive
Tags
Green Green List (high evidence)
ADGRG1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria, Frontoparietal, 606854
  • Polymicrogyria, perisylvian type, 615752
Tags
Green Green List (high evidence)
ADPRHL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170
Tags
  • new gene name
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)
ADSSL1
4 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy MONDO:0018958
Tags
Green Green List (high evidence)
ADSSL1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834
Tags
Green Green List (high evidence)
AFG3L2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 5, autosomal recessive MIM#614487
  • Spinocerebellar ataxia 28 MIM#610246
Tags
Green Green List (high evidence)
AFG3L2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia, spastic, 5, autosomal recessive
  • spastic ataxia 5, 614487
  • Spinocerebellar ataxia 28
  • Spinocerebellar ataxia 28, 610246
  • Spinocerebellar Ataxia, Dominant
Tags
Green Green List (high evidence)
AFG3L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 5, autosomal recessive, MIM# 614487
  • Spinocerebellar ataxia 28, MIM# 610246
Tags
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)
AGK
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Sengers Syndrome (MIM#212350
  • MONDO:0008922)
Tags
Green Green List (high evidence)
AGL
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease IIIa 232400
  • Glycogen storage disease IIIb 232400
Tags
Green Green List (high evidence)
AGRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Tags
  • clinical trial
  • treatable
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)
AGTPBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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)
AHCY
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Tags
Green Green List (high evidence)
AHI1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 3
Tags
Green Green List (high evidence)
AIFM1
4 reviews
3 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816)
  • Encephalamyopathy, Mitochondrial, X-Linked
Tags
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)
AIMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, MIM#260600
Tags
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 9B, autosomal recessive, MIM# 616586
  • Spastic paraplegia 9A, autosomal dominant, MIM# 601162
Tags
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 9B, autosomal recessive, MIM# 616586
  • Spastic paraplegia 9A, autosomal dominant, MIM# 601162
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)
ALDH3A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sjögren-Larsson syndrome
Tags
Green Green List (high evidence)
ALDH5A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
Green Green List (high evidence)
ALDOA
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XII 611881
Tags
Green Green List (high evidence)
ALS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paralysis, infantile onset ascending, MIM# 607225
Tags
Green Green List (high evidence)
ALS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100
  • MONDO: MONDO:0008780)
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)
AMFR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 89, autosomal recessive, MIM# 620379
Tags
Green Green List (high evidence)
ANO10
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia autosomal recessive type 10, 613728
  • Spinocerebellar ataxia, autosomal recessive 10
Tags
Green Green List (high evidence)
ANO10
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Tags
Green Green List (high evidence)
ANO5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Miyoshi muscular dystrophy 3 613319
  • Muscular dystrophy, limb-girdle, type 2L 611307
Tags
Green Green List (high evidence)
ANO5
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2L, 611307
  • Miyoshi muscular dystrophy 3, 613319
Tags
Green Green List (high evidence)
ANXA11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amytrophic lateral sclerosis 23 MIM#617839
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)
AP1S2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pettigrew syndrome, MIM# 304340
Tags
Green Green List (high evidence)
AP4B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, 614066
Tags
Green Green List (high evidence)
AP4E1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, 613744
Tags
Green Green List (high evidence)
AP4M1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, 612936
Tags
Green Green List (high evidence)
AP4S1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • developmental delay
  • Spastic paraplegia 52, autosomal recessive, 614067
  • seizures
Tags
Green Green List (high evidence)
AP5Z1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, MIM# 613647
  • MONDO:0013342
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)
APTX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Tags
Green Green List (high evidence)
ARG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Progressive spastic tetraplegia
  • Argininaemia, 207800
Tags
  • treatable
Green Green List (high evidence)
ARL13B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 8, MIM# 612291
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)
ARL6IP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 61, autosomal recessive, MIM#615685
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)
ARSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Metachromatic Leukodystrophy, 250100
  • Metachromatic leukodystrophy (#250100)
Tags
  • clinical trial
  • treatable
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)
ASCC1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital Myopathy - MONDO:0019952
Tags
Green Green List (high evidence)
ASCC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807
  • MIM#616867)
Tags
Green Green List (high evidence)
ASCC3
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 81, MIM# 620700
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)
ATAD3A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Harel-Yoon syndrome, MIM# 617183
Tags
Green Green List (high evidence)
ATCAY
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia, cerebellar, Cayman type, MIM# 601238
  • MONDO:0011025
Tags
Green Green List (high evidence)
ATG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia, SCAR31, MIM#619422
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)
ATL1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 3A, autosomal dominant MIM#182600
Tags
Green Green List (high evidence)
ATL1
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 3A, MIM 182600
  • Hereditary spastic paraplegia, AR
Tags
Green Green List (high evidence)
ATL1
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary sensory neuropathy type ID, MIM 613708
  • Spastic paraplegia 3A, MIM 182600
  • Hereditary spastic paraplegia, AR
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)
ATM
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia MIM#208900
Tags
Green Green List (high evidence)
ATM
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia, 607585
  • Ataxia-Telangiectasia
Tags
Green Green List (high evidence)
ATP13A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 78, autosomal recessive, 617225
  • Kufor-Rakeb syndrome, 606693 AR
  • complicated hereditary spastic paraplegia
  • Adult-onset lower-limb predominant spastic paraparesis
Tags
Green Green List (high evidence)
ATP13A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kufor-Rakeb syndrome MIM#606693
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)
ATP1A3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Alternating hemiplegia of childhood 2 MIM#614820
  • CAPOS syndrome MIM#601338
Tags
Green Green List (high evidence)
ATP1A3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAPOS syndrome, 601338
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
  • Dystonia-12, 128235
  • Alternating hemiplegia of childhood 2, 614820
  • DYSTONIA 12, 128235
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
  • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Tags
Green Green List (high evidence)
ATP2A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Brody myopathy 601003
Tags
Green Green List (high evidence)
ATP2A1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Brody myopathy, MIM# 601003
Tags
Green Green List (high evidence)
ATP2B2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Tags
Green Green List (high evidence)
ATP6V0A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 104 MIM#619970
  • Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971
Tags
Green Green List (high evidence)
ATP6V1A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IID MIM#617403
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)
ATP8A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Tags
Green Green List (high evidence)
ATRX
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
  • NHS GMS
Phenotypes
  • ATR-X-related syndrome MONDO:0016980
Tags
Green Green List (high evidence)
B3GALNT2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
  • MONDO:0014071
Tags
Green Green List (high evidence)
B4GALNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 26, autosomal recessive MIM#609195
Tags
Green Green List (high evidence)
B4GALNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, 609195
Tags
Green Green List (high evidence)
B4GAT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Tags
Green Green List (high evidence)
BAG3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 6 612954
Tags
Green Green List (high evidence)
BBS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 1, 209900
Tags
Green Green List (high evidence)
BCAS3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641
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
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • distal myopathy MONDO:0018949
Tags
Green Green List (high evidence)
BICD2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290
  • MONDO:0014121
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
  • dHMN/dSMA
Tags
Green Green List (high evidence)
BIN1
4 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Centronuclear myopathy 2 (MONDO: 0009709
  • MIM#255200)
Tags
Green Green List (high evidence)
BRAT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
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)
BSCL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Silver spastic paraplegia syndrome MIM#270685
  • Encephalopathy, progressive, with or without lipodystrophy MIM#615924
Tags
Green Green List (high evidence)
BSCL2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Silver spastic paraplegia syndrome MIM#270685
  • Neuropathy, distal hereditary motor, type VA MIM#600794
Tags
Green Green List (high evidence)
BSCL2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Silver spastic paraplegia syndrome, 270685
  • HSP 17, MONDO:0010043
Tags
Green Green List (high evidence)
BVES
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
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)
C12orf65
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 55, autosomal recessive, 615035
  • optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy
  • Combined oxidative phosphorylation deficiency 7, 613559
Tags
  • new gene name
Green Green List (high evidence)
C19orf12
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration with brain iron accumulation 4, MIM# 614298
  • Spastic paraplegia 43, autosomal recessive, MIM# 615043
Tags
Green Green List (high evidence)
C19orf12
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration with brain iron accumulation 4, 614298
  • Spastic paraplegia 43, autosomal recessive, 615043
Tags
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)
C1QBP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external opthalmoplegia
  • mitochondrial myopathy
Tags
Green Green List (high evidence)
C5orf42
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 17, MIM# 614615
Tags
Green Green List (high evidence)
CA8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Tags
Green Green List (high evidence)
CACNA1A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Episodic ataxia, type 2 MIM#108500
Tags
  • STR
Green Green List (high evidence)
CACNA1A
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 6
  • familial hemiplegic migraine type 1, 141500
  • Familial hemiplegic migraine 1, 141500
  • SCA6, 183086
  • episodic ataxia type 2 (EA2),108500
  • Episodic ataxia type 2, 108500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
  • Episodic ataxia, type 2
Tags
  • STR
Green Green List (high evidence)
CACNA1G
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • early-onset SCA42 with neurodevelopmental deficits, 618087
  • Spinocerebellar ataxia 42, 616795
Tags
Green Green List (high evidence)
CACNA1G
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087
Tags
Green Green List (high evidence)
CACNA1S
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Malignant hyperthermia susceptibility type 5
  • Hypokalemic periodic paralysis, type 1, 170400
Tags
Green Green List (high evidence)
CACNA1S
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • {Malignant hyperthermia susceptibility 5}, 601887
Tags
Green Green List (high evidence)
CACNA1S
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital myopathy MONDO:0019952
Tags
Green Green List (high evidence)
CACNA2D2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Tags
Green Green List (high evidence)
CAD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 50
  • OMIM # 616457
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)
CAMTA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellarataxia, nonprogressive, with mental retardation, 614756
  • Cerebellar ataxia with mental retardation, 614756
Tags
Green Green List (high evidence)
CANVAS
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)
CANVAS
STR
2 reviews
2 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)
CAPN1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 76, autosomal recessive, 616907
  • MONDO:0014827
Tags
Green Green List (high evidence)
CAPN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
Phenotypes
  • Spastic paraplegia 76 autosomal recessive, 616907
  • MONDO:0014827
Tags
Green Green List (high evidence)
CAPN3
4 reviews
4 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129
  • Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600
Tags
Green Green List (high evidence)
CASK
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
  • Expert Review Green
Phenotypes
  • FG syndrome 4, 300422
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Tags
Green Green List (high evidence)
CASQ1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates 616231
Tags
  • founder
Green Green List (high evidence)
CASQ1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates MIM#616231
Tags
Green Green List (high evidence)
CAV3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Caveolinopathy MONDO:0016146
Tags
Green Green List (high evidence)
CAV3
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, distal, Tateyama type 614321
  • Rippling muscle disease 2 606072
Tags
Green Green List (high evidence)
CAV3
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type IC 607801
  • Rippling muscle disease 606072
  • Myopathy, distal, Tateyama type 614321
Tags
Green Green List (high evidence)
CAVIN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review
Phenotypes
  • Lipodystrophy, congenital generalized, type 4 (MIM#613327)
Tags
  • treatable
Green Green List (high evidence)
CBY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • cerebellar ataxia
  • molar tooth sign
  • polydactyly
  • Joubert syndrome
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 9
Tags
Green Green List (high evidence)
CCDC82
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CCDC82-related
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)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 5
Tags
Green Green List (high evidence)
CEP41
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 15
Tags
Green Green List (high evidence)
CFL2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 7 (MONDO:0012538
  • MIM#610687)
Tags
Green Green List (high evidence)
CHAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Congenital myasthenics syndrome associated with episodic apnea
  • Myasthenic syndrome, congenital, 6, presynaptic, 254210
Tags
  • treatable
Green Green List (high evidence)
CHCHD10
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532
Tags
Green Green List (high evidence)
CHCHD10
3 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
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)
CHKB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, MIM# 602541
Tags
Green Green List (high evidence)
CHMP2B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936)
Tags
Green Green List (high evidence)
CHRM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Prune belly syndrome, MIM# 100100
  • Posterior urethral valves & prune belly syndrome
Tags
Green Green List (high evidence)
CHRNA1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156
Tags
Green Green List (high evidence)
CHRNA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 1B, fast-channel, 608930
  • Myasthenic syndrome, congenital, 1A, slow-channel, 601462
Tags
  • treatable
Green Green List (high evidence)
CHRNB1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Tags
Green Green List (high evidence)
CHRND
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322
  • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323
  • Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321
Tags
  • treatable
Green Green List (high evidence)
CHRNE
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Tags
  • treatable
Green Green List (high evidence)
CHRNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM# 253290
  • fetal akinesia deformation sequence syndrome/FADS
  • Neonatal congenital myasthenia
  • Escobar syndrome
  • Myasthenia gravis, neonatal transient
Tags
Green Green List (high evidence)
CHST14
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776
Tags
Green Green List (high evidence)
CIAO1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 10, MIM#620960
Tags
Green Green List (high evidence)
CLCN1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myotonia congenita, dominant, 160800
  • Hyperkalemic Periodic Paralysis
  • Myotonia Congenita
  • Myotonia
  • Myotonia congenita, recessive, 255700
  • Myotonia levior, recessive
Tags
Green Green List (high evidence)
CLCN2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
  • Leukoencephalopathy with ataxia, 615651
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Tags
Green Green List (high evidence)
CLMP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital short bowel syndrome , MIM#615237
Tags
Green Green List (high evidence)
CLN5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis neuronal 5, MIM# 256731
Tags
Green Green List (high evidence)
CLN6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Ceroid neuronal lipofuscinosis 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
  • Ceroid neuronal lipofuscinosis kufs type, 204300
  • Ceroid lipofuscinosis, neuronal, 6, 601780
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)
CLPP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Perrault syndrome 3, MIM# 614129
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
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia with axonal neuropathy
Tags
Green Green List (high evidence)
COA7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
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)
COL12A1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ullrich congenital muscular dystrophy 2 , MIM# 616470
Tags
Green Green List (high evidence)
COL13A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 19, 616720
Tags
  • treatable
Green Green List (high evidence)
COL6A1
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bethlem myopathy MIM#158810
  • Ullrich congenital muscular dystrophy MIM#254090
Tags
Green Green List (high evidence)
COL6A1
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Bethlem myopathy MIM#158810
  • Ullrich congenital muscular dystrophy MIM#254090
Tags
Green Green List (high evidence)
COL6A2
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
COL6A2
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Bethlem myopathy 1 MIM#158810
  • Ullrich congenital muscular dystrophy 1 MIM#254090
Tags
Green Green List (high evidence)
COL6A3
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
COL6A3
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Bethlem myopathy 1 MIM#158810
  • Ullrich congenital muscular dystrophy 1 MIM#254090
Tags
Green Green List (high evidence)
COLQ
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 5, MIM# 603034
  • Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
COQ4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, MIM# 616276
  • Childhood-onset ataxia
Tags
  • treatable
Green Green List (high evidence)
COQ4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spastic ataxia 10, autosomal recessive, MIM# 620666
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)
COQ8A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4 MIM#612016
Tags
  • treatable
Green Green List (high evidence)
COQ8A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Primary coenzyme Q10 deficiency 4, 612016
  • Spinocerebellar Ataxia Type
  • Coenzyme Q10 deficiency, primary 4, 612016
Tags
  • treatable
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)
COX20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Mitochondrial complex IV deficiency
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)
CP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aceruloplasminemia, 604290
  • Cerebellar ataxia, 604290
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
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)
CPT1C
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 73, autosomal dominant, MIM#616282
  • MONDO:0014568
Tags
Green Green List (high evidence)
CPT2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
Tags
  • treatable
Green Green List (high evidence)
CSF1R
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820
  • ataxia
Tags
Green Green List (high evidence)
CSMD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
CSTB
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800
Tags
  • 5'UTR
  • STR
Green Green List (high evidence)
CTBP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
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)
CWF19L1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
  • Autosomal recessive spinocerebellar ataxia type 17, 616127
Tags
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)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
CYP27A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
  • MONDO:0008948
  • progressive lower extremity spasticity,often disproportionate to any degree of weakness
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, 615030
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
  • Expert list
Phenotypes
  • Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Tags
Green Green List (high evidence)
CYP7B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 5A, autosomal recessive, 270800
  • MONDO:0010047
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)
DAG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
Tags
Green Green List (high evidence)
DAG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
  • Walker-Warburg syndrome and tectocerebellar dysgraphia
Tags
Green Green List (high evidence)
DAGLA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuroocular syndrome 2, paroxysmal type, MIM# 168885
Tags
Green Green List (high evidence)
DARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name
Green Green List (high evidence)
DARS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Brain stem and spinal cord Hypomyelination
  • leg spasticity
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
Green Green List (high evidence)
DARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641
  • MONDO:0011879
Tags
Green Green List (high evidence)
DCTN1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
DDHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 28, autosomal recessive, MIM# 609340
  • MONDO:0012256
Tags
Green Green List (high evidence)
DDHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 28, autosomal recessive, 609340
  • MONDO:0012256
Tags
Green Green List (high evidence)
DDHD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, MIM# 615033
  • MONDO:0014018
Tags
Green Green List (high evidence)
DDHD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.
  • Spastic paraplegia 54
Tags
Green Green List (high evidence)
DDHD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, MIM# 615033
  • MONDO:0014018
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)
DES
4 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 1 601419
Tags
Green Green List (high evidence)
DES
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 1 , MIM#601419
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)
DGUOK
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
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)
DHDDS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Tags
Green Green List (high evidence)
DHH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Tags
Green Green List (high evidence)
DHX16
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733
  • MONDO:0032890)
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)
DM1
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 MIM#160900
Tags
Green Green List (high evidence)
DMD
3 reviews
3 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Duchenne muscular dystrophy (MIM#310200)
  • Becker muscular dystrophy (MIM#300376)
Tags
  • SV/CNV
Green Green List (high evidence)
DMD
4 reviews
3 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 Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Becker muscular dystrophy 300376
Tags
Green Green List (high evidence)
DMD
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Duchenne muscular dystrophy, MIM# 310200
Tags
  • SV/CNV
Green Green List (high evidence)
DMD
3 reviews
3 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 Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Duchenne muscular dystrophy 310200
  • Becker muscular dystrophy 300376
Tags
Green Green List (high evidence)
DNA2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
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)
DNAJB2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Tags
Green Green List (high evidence)
DNAJB4
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital Myopathy 21 with early respiratory failure (MIM#620326
  • MONDO:005336)
Tags
Green Green List (high evidence)
DNAJB4
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • distal myopathy MONDO:0018949
  • Myopathy, MONDO:0005336, DNAJB4-related
Tags
Green Green List (high evidence)
DNAJB6
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1E, 603511
Tags
Green Green List (high evidence)
DNAJB6
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
DNAJC19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type V 610198
  • dilated cardiomyopathy with ataxia (DCMA) syndrome
  • 3-methylglutaconic aciduria type V, 610198
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)
DNAJC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
  • Ceroid neuronal lipofuscinosis 4, Parry type, 162350
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)
DNM2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Centronuclear Myopathy 1 (MIM#160150
  • MONDO:0008048)
Tags
Green Green List (high evidence)
DNM2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant centronuclear myopathy MONDO:0008048
Tags
Green Green List (high evidence)
DNMT1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory, type IE, 614116
  • Dementia, Deafness, and Sensory Neuropathy
  • HSAN/SFN
Tags
Green Green List (high evidence)
DNMT1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, deafness and narcolepsy, 604121
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
  • Hereditary sensory neuropathy type IE, 614116
Tags
Green Green List (high evidence)
DOCK3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Tags
Green Green List (high evidence)
DOK7
4 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, congenital, 10 254300
Tags
Green Green List (high evidence)
DOK7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 10, 254300
  • Myasthenia, limb-girdle, familial
Tags
Green Green List (high evidence)
DOLK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • DK1-CDG, MONDO:0012556
  • Congenital disorder of glycosylation, type Im, MIM# 610768
Tags
Green Green List (high evidence)
DPAGT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • tubular aggregate myopathy MONDO:0008051
Tags
Green Green List (high evidence)
DPAGT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
  • Limb girdle congenital myasthenic
  • Congenital disorder of glycosylation, type Ij, 608093
Tags
Green Green List (high evidence)
DPM1
2 reviews
1 green 		Unknown
Sources
  • Expert Review
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
DPM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Tags
Green Green List (high evidence)
DPM3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937
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)
DRPLA
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubral-pallidoluysian atrophy MIM#125370
Tags
  • STR
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)
DTNA
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, MONDO:0020121, DTNA-related
Tags
Green Green List (high evidence)
DTNA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, MONDO:0020121, DTNA-related
Tags
Green Green List (high evidence)
DYNC1H1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600
  • MONDO:0008026)
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)
DYSF
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
DYSF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B 253601
  • Myopathy, distal, with anterior tibial onset 606768
  • Miyoshi muscular dystrophy 1 254130
Tags
Green Green List (high evidence)
DYSF
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy, distal, with anterior tibial onset, 606768
  • Miyoshi muscular dystrophy 1, 254130
  • Muscular dystrophy, limb-girdle, type 2B, 253601
Tags
Green Green List (high evidence)
EBF3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hypotonia, ataxia and delayed development syndrome, 617330
Tags
Green Green List (high evidence)
EDN3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Waardenburg syndrome, type 4B, MIM# 613265
Tags
Green Green List (high evidence)
EDNRB
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Waardenburg syndrome, type 4A, MIM# 277580
Tags
Green Green List (high evidence)
EEFSEC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
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)
EIF2B1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter MIM#603896
Tags
Green Green List (high evidence)
EIF2B1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter MIM#603896
Tags
Green Green List (high evidence)
EIF2B3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with vanishing white matter MIM#603896
Tags
Green Green List (high evidence)
EIF2B3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with vanishing white matter MIM#603896
Tags
Green Green List (high evidence)
EIF2B5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with vanishing white matter MIM#603896
Tags
Green Green List (high evidence)
EIF2B5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
ELOVL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
Tags
Green Green List (high evidence)
ELOVL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 34 133190
  • Spinocerebellar ataxia 34, 133190
Tags
Green Green List (high evidence)
ELOVL5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 38, MIM#615957
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)
EMD
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Tags
Green Green List (high evidence)
EMD
2 reviews
2 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
  • Royal Melbourne Hospital
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Tags
Green Green List (high evidence)
ENO3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease XIII 612932
Tags
Green Green List (high evidence)
ENTPD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 64, autosomal recessive MIM#615683
Tags
Green Green List (high evidence)
EPG5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Vici Syndrome (MONDO: 0009452
  • MIM#242840)
Tags
Green Green List (high evidence)
EPM1
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Tags
  • STR
Green Green List (high evidence)
EPM2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Progressive myoclonic epilepsy 2A, Lafora, 254780
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
Green Green List (high evidence)
ERBB3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180
  • Complex neurocristinopathy
Tags
Green Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia
  • Xeroderma pigmentosum, group F, MIM# 278760
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)
ERLIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 62, 615681
  • Hereditary spastic paraplegia
Tags
Green Green List (high evidence)
ERLIN2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 18, autosomal recessive, MIM# 611225
  • Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Tags
Green Green List (high evidence)
ERLIN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 18, autosomal recessive, MIM# 611225
  • Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Tags
Green Green List (high evidence)
ETFA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric acidemia IIA 231680
Tags
  • treatable
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)
ETFDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric acidemia IIC 231680
Tags
  • treatable
Green Green List (high evidence)
EXOSC5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576
  • Short stature
  • Motor developmental delays
  • Cerebellar hypoplasia
  • Ataxia
Tags
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)
FA2H
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 35, autosomal recessive, MIM# 612319
Tags
Green Green List (high evidence)
FA2H
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 35, autosomal recessive, 611026
  • MONDO:0012866
Tags
Green Green List (high evidence)
FA2H
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 35, autosomal recessive MIM#612319
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)
FAM111B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Tags
Green Green List (high evidence)
FAR1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cataracts, spastic paraparesis, and speech delay, MIM#619338
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Tags
Green Green List (high evidence)
FARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 77, autosomal recessive, 617046
Tags
Green Green List (high evidence)
FASTKD2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation deficiency 44 (MIM#618855)
Tags
Green Green List (high evidence)
FAT2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia 45, MIM#617769
Tags
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)
FBXL4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471
Tags
Green Green List (high evidence)
FBXO7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Parkinson disease 15, autosomal recessive MIM#260300
Tags
Green Green List (high evidence)
FDX2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900
Tags
Green Green List (high evidence)
FDXR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
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)
FGF14
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 27 MIM#609307
Tags
Green Green List (high evidence)
FGF14
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia type 27, 609307
  • Spinocerebellar ataxia 27
Tags
Green Green List (high evidence)
FHL1
3 reviews
2 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
  • Expert list
Phenotypes
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717
Tags
Green Green List (high evidence)
FHL1
3 reviews
2 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
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Reducing body myopathy MONDO:0019948
  • X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
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)
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)
FILIP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775
Tags
Green Green List (high evidence)
FKBP14
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800
Tags
Green Green List (high evidence)
FKRP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • myopathy caused by variation in FKRP MONDO:0700066
Tags
Green Green List (high evidence)
FKRP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
FKRP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Tags
Green Green List (high evidence)
FKTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
  • Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
  • Cardiomyopathy, dilated, 1X, 611615
Tags
Green Green List (high evidence)
FKTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy MONDO:0018276
Tags
Green Green List (high evidence)
FLAD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Tags
Green Green List (high evidence)
FLNA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Intestinal pseudoobstruction, neuronal, MIM# 300048
  • Congenital short bowel syndrome, MIM# 300048
Tags
Green Green List (high evidence)
FLNC
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, familial restrictive 5 617047
  • Myopathy, distal, 4 614065
  • Myopathy, myofibrillar, 5 609524
Tags
Green Green List (high evidence)
FLVCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Posterior column ataxia with retinitis pigmentosa, 609033
  • Ataxia, posterior column, with retinitis pigmentosa,
  • Posterior Column Ataxia with Retinitis Pigmentosa
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)
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)
FOLR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • Neurodegeneration due to cerebral folate transport deficiency
Tags
Green Green List (high evidence)
FRDA
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
  • STR
Green Green List (high evidence)
FRMD5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Tags
Green Green List (high evidence)
FTDALS
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Tags
Green Green List (high evidence)
FUS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030)
Tags
Green Green List (high evidence)
FXN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
  • STR
Green Green List (high evidence)
FXN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Friedreich ataxia with retained reflexes,229300
  • Friedreich ataxia, 229300
  • Friedreichataxia, 229300
Tags
  • STR
Green Green List (high evidence)
FXN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Friedreich ataxia, 229300
Tags
  • STR
  • SV/CNV
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)
FXR1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823
  • MONDO:0032937)
Tags
Green Green List (high evidence)
FXTAS
STR
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
  • Expert list
Phenotypes
  • Fragile X tremor/ataxia syndrome MIM#300623
Tags
  • STR
Green Green List (high evidence)
GAA
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glycogen storage disease II 232300
Tags
Green Green List (high evidence)
GAA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease II (MIM#232300)
Tags
Green Green List (high evidence)
GALC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Krabbe disease MIM#245200
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)
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, MIM# 614409
  • MONDO:0013737
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)
GBA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409
  • MONDO:0013737
Tags
Green Green List (high evidence)
GBA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, MIM# 614409
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)
GBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease IV, MIM# 232500
  • Polyglucosan body disease, adult form MIM#263570
Tags
Green Green List (high evidence)
GBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polyglucosan body disease, adult form MIM#263570
Tags
Green Green List (high evidence)
GBE1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyglucosan body disease, adult form MIM#263570
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)
GCH1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary spastic paraplegia MONDO:0019064, GCH1-related
Tags
Green Green List (high evidence)
GCH1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
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)
GDAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia
Tags
Green Green List (high evidence)
GEMIN5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333
Tags
Green Green List (high evidence)
GFAP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alexander disease MONDO:0008752
Tags
Green Green List (high evidence)
GFAP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Alexander disease, 203450
  • Autosomal Dominant Ataxia
  • Alexander disease
Tags
Green Green List (high evidence)
GFAP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alexander disease MONDO:0008752
Tags
Green Green List (high evidence)
GFER
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076)
Tags
Green Green List (high evidence)
GFPT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates MIM#610542
  • Limb-girdle congenital myasthenic syndrome
Tags
Green Green List (high evidence)
GFPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Limb-girdle congenital myasthenic syndrome
Tags
Green Green List (high evidence)
GGPS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518
  • Muscular dystrophy
  • Deafness
  • Ovarian insufficiency
Tags
Green Green List (high evidence)
GJA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary spastic paraplegia
  • Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
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
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypomyelinating leukodystrophy 2, 608804
  • Leukodystrophy, hypomyelinating, 2
  • Autosomal Recessive Ataxia
  • Spastic paraplegia 44, 613206
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)
GLRX5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spasticity, childhood-onset, with hyperglycinemia 616859
Tags
Green Green List (high evidence)
GMPPB
1 review
1 green 		Unknown
Sources
  • Expert Review
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GMPPB
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Tags
Green Green List (high evidence)
GMPPB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Tags
Green Green List (high evidence)
GMPPB
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352
  • Limb myalgia
  • exercise intolerance
  • myoglobinuria
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)
GNE
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Nonaka myopathy (MIM#605820)
Tags
Green Green List (high evidence)
GOLGA2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240
Tags
Green Green List (high evidence)
GOSR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
  • Progressive myoclonic epilepsy 6, 614018
Tags
Green Green List (high evidence)
GOSR2
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy, congenital, with or without seizures, MIM# 620166
Tags
Green Green List (high evidence)
GPAA1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green Green List (high evidence)
GPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Tags
Green Green List (high evidence)
GRID2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18, 616204
Tags
Green Green List (high evidence)
GRM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13
  • Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831
Tags
Green Green List (high evidence)
GRN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923
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)
GSS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Gluthathione synthetase deficiency, MIM# 266130
Tags
Green Green List (high evidence)
GUK1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 21, MIM# 621071
Tags
Green Green List (high evidence)
GYG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyglucosan body myopathy 2, MIM# 616199
  • Glycogen storage disease XV , MIM# 613507
Tags
Green Green List (high evidence)
GYG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Glycogen storage disease XV 613507
  • Polyglucosan body myopathy 2 616199
Tags
Green Green List (high evidence)
GYS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease 0, muscle 611556
Tags
Green Green List (high evidence)
HACD1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital myopathy 11 (MIM#619967
  • MONDO:0019952)
Tags
Green Green List (high evidence)
HACE1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
  • MONDO:0014764
  • Spastic paraplegia
  • psychomotor retardation
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)
HADHA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • LCHAD deficiency MIM#609016
  • Trifunctional protein deficiency MIM#609015
Tags
  • treatable
Green Green List (high evidence)
HADHB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800
Tags
Green Green List (high evidence)
HEXA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
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
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms MIM#268800
Tags
Green Green List (high evidence)
HEXB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, 268800
  • Sandhoff disease, 268800
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
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria, acute intermittent MIM#176000
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)
HMGCR
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related
Tags
Green Green List (high evidence)
HMGCS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rigid spine syndrome, MONDO:0019951, HMGCS1-related
Tags
Green Green List (high evidence)
HNRNPA1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, distal, 3, MIM# 610099
  • inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179
Tags
Green Green List (high evidence)
HNRNPA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 20 MIM#615426
Tags
Green Green List (high evidence)
HNRNPA2B1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
Tags
Green Green List (high evidence)
HNRNPDL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1G 609115
Tags
Green Green List (high evidence)
HPDL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026
  • Progressive neurological disorder
  • Leigh-like syndrome
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
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078
  • autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773
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)
HSPD1
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 4, MIM# 612233
  • Spastic paraplegia 13, autosomal dominant, MIM# 605280
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)
IBA57
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 74, autosomal recessive MIM#616451
Tags
Green Green List (high evidence)
IDS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mucopolysaccharidosis II, MIM# 309900
Tags
Green Green List (high evidence)
IFIH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aicardi-Goutieres syndrome 7 MIM#615846
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)
INPP4A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • INPP4A-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
INPP4A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • INPP4A-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
INPP5E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 1
Tags
Green Green List (high evidence)
INPP5K
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
IRF2BPL
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088
Tags
Green Green List (high evidence)
ISCU
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy with lactic acidosis, hereditary, MIM# 255125
Tags
Green Green List (high evidence)
ISPD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052
Tags
  • SV/CNV
Green Green List (high evidence)
ISPD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
Tags
Green Green List (high evidence)
ITGA7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Tags
Green Green List (high evidence)
ITM2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebellar ataxia, cataract, deafness, and dementia or psychosis
  • Danish familial dementia
Tags
Green Green List (high evidence)
ITPR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gillespie syndrome, 206700
  • Spinocerebellar ataxia 29
  • Spinocerebellar ataxia 29, 117360
  • Spinocerebellar ataxia 15
  • Spinocerebellar ataxia 15, 606658
Tags
Green Green List (high evidence)
ITPR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 15 MIM#606658
  • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Tags
Green Green List (high evidence)
ITPR3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Tags
Green Green List (high evidence)
JAG1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peripheral neuropathy
Tags
Green Green List (high evidence)
JAG2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566
  • muscular dystrophy
Tags
Green Green List (high evidence)
JAG2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456
Tags
Green Green List (high evidence)
JPH1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Congenital myopathy 25, MIM# 620964
Tags
Green Green List (high evidence)
KBTBD13
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 6, autosomal dominant (MIM# 609273
  • MONDO:0012237)
Tags
Green Green List (high evidence)
KCNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • EA1
  • Episodic ataxia/myokymia syndrome, 160120
  • Myokymia
  • Episodic Ataxia
  • Episodic Ataxia, Type 1
Tags
Green Green List (high evidence)
KCNA1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • EPISODIC ATAXIA, TYPE 1
  • myokymia with periodic ataxia
  • Episodic ataxia/myokymia syndrome, 160120
  • Episodic ataxia/myokymia syndrome
Tags
Green Green List (high evidence)
KCNA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary spastic paraplegia and ataxia
Tags
Green Green List (high evidence)
KCNA2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Early infantile encephalopathy 32, 616366
Tags
Green Green List (high evidence)
KCNC3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 13 MIM#605259
Tags
Green Green List (high evidence)
KCNC3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 13
  • Spinocerebellar ataxia 13, 605259
Tags
Green Green List (high evidence)
KCND3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 19, MIM# 607346
Tags
Green Green List (high evidence)
KCND3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spinocerebellar ataxia 19, MIM# 607346
Tags
Green Green List (high evidence)
KCNJ10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
  • SESAME syndrome, 612780
Tags
Green Green List (high evidence)
KCNJ2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypokalemic Periodic Paralysis, Type 2
  • Periodic paralysis
  • Andersen syndrome, MIM# 170390
  • Episodic weakness
  • Andersen syndrome
Tags
Green Green List (high evidence)
KCNN2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Tags
Green Green List (high evidence)
KDM5C
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
  • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534
  • MONDO:0010355
Tags
Green Green List (high evidence)
KIDINS220
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296
  • MONDO:0015007
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)
KIF1A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 30, autosomal dominant MIM# 610357
  • Spastic paraplegia 30, autosomal recessive 620607
Tags
Green Green List (high evidence)
KIF1A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 30, autosomal dominant MIM# 610357
  • Spastic paraplegia 30, autosomal recessive 620607
Tags
Green Green List (high evidence)
KIF1C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 2,autosomal recessive
  • Autosomal recessive spastic ataxia 2, 611302
Tags
Green Green List (high evidence)
KIF1C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 2, autosomal recessive, 611302
  • Spastic ataxia 2, autosomal recessive
Tags
Green Green List (high evidence)
KIF1C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic ataxia 2, autosomal recessive MIM#611302
Tags
Green Green List (high evidence)
KIF5A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921
Tags
Green Green List (high evidence)
KIF5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 10, autosomal dominant, MIM# 604187
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)
KIF5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 10, autosomal dominant, MIM# 604187
Tags
Green Green List (high evidence)
KIF7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Koubert syndrome 12
  • Acrocallosal syndrome, Schinzel type
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)
KLC2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541
Tags
  • SV/CNV
Green Green List (high evidence)
KLHL40
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, MIM# 615348
Tags
Green Green List (high evidence)
KLHL41
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline Myopathy 9 (MIM#615731
  • MONDO:0014326)
Tags
Green Green List (high evidence)
KPNA3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia-88 (SPG88), MIM#620106
Tags
Green Green List (high evidence)
KY
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 7 (MIM#617114)
Tags
Green Green List (high evidence)
L1CAM
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000
Tags
Green Green List (high evidence)
L1CAM
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary spastic paraplegia, 308840
  • MASA syndrome, 303350
  • X-linked hydrocephalus, 307000
Tags
Green Green List (high evidence)
LAMA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Poretti-Boltshauser syndrome
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Tags
Green Green List (high evidence)
LAMA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
  • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Tags
Green Green List (high evidence)
LAMA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
  • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Tags
Green Green List (high evidence)
LAMP2
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Danon disease, MIM# 300257
  • MONDO:0010281
Tags
Green Green List (high evidence)
LARGE1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
LARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Perrault syndrome 4
  • Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
  • Leukodystrophy
Tags
Green Green List (high evidence)
LDB3
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • myofibrillar myopathy 4 MONDO:0012277
Tags
Green Green List (high evidence)
LDHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XI, MIM# 612933
Tags
Green Green List (high evidence)
LETM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Tags
Green Green List (high evidence)
LIG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Tags
Green Green List (high evidence)
LITAF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 1C, MIM# 601098
  • MONDO:0010995
Tags
Green Green List (high evidence)
LMNA
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350)
Tags
Green Green List (high evidence)
LMNA
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
LMNB1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, adult-onset, autosomal dominant MIM#169500
Tags
  • SV/CNV
Green Green List (high evidence)
LMOD3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 10 (MIM# 616165
  • MONDO:0014513)
Tags
Green Green List (high evidence)
LPIN1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive 268200
Tags
Green Green List (high evidence)
LRP12-ALS_CGG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Amyotrophic lateral sclerosis MONDO:0004976
  • Amyotrophic lateral sclerosis 28, MIM# 620452
Tags
Green Green List (high evidence)
LRP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 17, 616304
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)
MAG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, 616680
  • Cerebellar ataxia
Tags
Green Green List (high evidence)
MAG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, MIM# 616680
  • Cerebellar ataxia
  • Oculomotor apraxia
Tags
Green Green List (high evidence)
MAN2B1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Alpha-mannosidosis MONDO:0009561
Tags
Green Green List (high evidence)
MAP3K20
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Royal Melbourne Hospital
Phenotypes
  • Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760
  • MONDO:0054695)
Tags
Green Green List (high evidence)
MAPK8IP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with or without variable brain abnormalities 618443
Tags
Green Green List (high evidence)
MARS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 3, autosomal recessive MIM#611390
Tags
  • SV/CNV
Green Green List (high evidence)
MARS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 3, autosomal recessive, 611390
Tags
  • SV/CNV
Green Green List (high evidence)
MARS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 3, autosomal recessive MIM#611390
Tags
  • SV/CNV
Green Green List (high evidence)
MATR3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • distal myopathy with vocal cord weakness MONDO:0018951
Tags
Green Green List (high evidence)
MATR3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
MB
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, sarcoplasmic body MIM#620286
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)
MED27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Tags
Green Green List (high evidence)
MEGF10
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • MEGF10-Related Myopathy MONDO:0013731
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)
MGME1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • mitochondrial DNA depletion syndrome 11 MONDO:0014039
Tags
Green Green List (high evidence)
MICU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy with extrapyramidal signs, MIM# 615673
Tags
  • founder
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 28
Tags
Green Green List (high evidence)
MLIP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Tags
Green Green List (high evidence)
MMACHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria cblC type, 277400
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
  • Ataxia and hypogonadism
Tags
  • treatable
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
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)
MORC2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Axonal type CMT disease type 2Z, 616688
  • Cerebellar ataxia
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)
MPDU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation, type If, MIM# 609180
  • MPDU1-CDG, MONDO:0012211
Tags
Green Green List (high evidence)
MPV17
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
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)
MRE11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-Telangiectasia-Like Disorder
  • Ataxia-telangiectasia-like disorder 1, 604391
Tags
Green Green List (high evidence)
MRUPAV
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • myopathy, distal, with rimmed vacuoles MONDO:0014945
Tags
Green Green List (high evidence)
MSTO1
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial myopathy and ataxia, 617675
Tags
Green Green List (high evidence)
MSTO1
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Myopathy, mitochondrial, and ataxia (MIM#617675)
Tags
Green Green List (high evidence)
MSTO1
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, mitochondrial, and ataxia MIM#617675
Tags
Green Green List (high evidence)
MTCL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs
Tags
Green Green List (high evidence)
MTFMT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 15 MIM#614947
  • Mitochondrial complex I deficiency, nuclear type 27 MIM#618248
Tags
Green Green List (high evidence)
MTM1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Myotubular myopathy, X-linked, 310400
Tags
Green Green List (high evidence)
MTM1
2 reviews
2 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
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • X-linked myotubular myopathy MONDO:0010683
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)
MTTP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Abetalipoproteinemia, 200100
  • Abetalipoproteinemia
Tags
  • treatable
Green Green List (high evidence)
MUSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
Tags
  • treatable
Green Green List (high evidence)
MVK
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mevalonic aciduria 610377
Tags
Green Green List (high evidence)
MYBPC1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Congenital Myopathy 16 (MIM#618524)
Tags
Green Green List (high evidence)
MYH11
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Visceral myopathy 2, MIM# 619350
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351
  • Dominant smooth muscle dysmotility syndrome
Tags
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)
MYH2
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, proximal, and ophthalmoplegia MONDO:0011577
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert list
Phenotypes
  • Laing distal myopathy (MIM#160500)
  • Scapuloperoneal syndrome, myopathic type (MIM#181430)
Tags
Green Green List (high evidence)
MYH7
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • MYH7-related skeletal myopathy MONDO:0008050
Tags
Green Green List (high evidence)
MYL2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424)
Tags
Green Green List (high evidence)
MYL9
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Tags
Green Green List (high evidence)
MYMK
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert Review
Phenotypes
  • Carey-Fineman-Ziter syndrome MONDO:0009700
Tags
Green Green List (high evidence)
MYMX
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome MONDO:0009700
Tags
Green Green List (high evidence)
MYO18B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689
Tags
Green Green List (high evidence)
MYOD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital Myopathy 17 (MIM#618975)
Tags
Green Green List (high evidence)
MYOT
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 3 (MIM#609200)
Tags
Green Green List (high evidence)
MYPN
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Nemaline Myopathy (MIM#617336
  • MONDO:0018958)
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)
NDC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • triple-A syndrome MONDO:0009279
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)
NEB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Nemaline Myopathy 2 (MIM#256030
  • MONDO: 0009725)
Tags
Green Green List (high evidence)
NEB
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • distal myopathy MONDO:0018949
Tags
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)
NEK1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892
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)
NFU1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711)
  • Spastic paraplegia 93, autosomal recessive, MIM# 620938
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)
NHLRC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive myoclonic epilepsy 2B, Lafora, 254780
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
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)
NIID
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
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)
NIPA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 6, autosomal dominant, MIM# 600363
  • MONDO:0010878
Tags
Green Green List (high evidence)
NIPA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 6, autosomal dominant, MIM# 600363
Tags
Green Green List (high evidence)
NKX2-1
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
  • Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978
  • Chorea, hereditary benign 118700
  • Hereditary bening chorea, 118700
Tags
Green Green List (high evidence)
NKX6-2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
Green Green List (high evidence)
NKX6-2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
  • MONDO:0033043
Tags
Green Green List (high evidence)
NOTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Tags
Green Green List (high evidence)
NOTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Tags
Green Green List (high evidence)
NOVA2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Niemann-Pick disease, type C1 MONDO:0009757
  • ataxia
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Niemann-Pick disease type C1, 257220
  • Niemann-Pick disease types C1 and D (#257220)
Tags
Green Green List (high evidence)
NPC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Niemann-Pick disease type C2, 607625
  • Niemann-Pick disease type C2 (#607625)
Tags
Green Green List (high evidence)
NPHP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 4
Tags
Green Green List (high evidence)
NPTX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cerebellar ataxia MONDO#0000437, NPTX1-related
Tags
Green Green List (high evidence)
NT5C2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 45, autosomal recessive, MIM# 613162
  • MONDO:0013165
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)
NUBPL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242
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)
NUS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, myoclonus, ataxia and scoliosis
  • Mental retardation, autosomal dominant 55, with seizures, 617831
Tags
Green Green List (high evidence)
OBSCN
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Rhabdomyolysis, MONDO:0005290, OBSCN-related
Tags
Green Green List (high evidence)
OFD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 10
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)
OPA1
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
  • Behr syndrome, 210000
  • Optic atrophy plus syndrome, 125250
  • Optic atrophy 1, 165500
Tags
Green Green List (high evidence)
OPA1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429
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)
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)
OPA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-methylglutaconic aciduria, type III, MIM# 258501
Tags
Green Green List (high evidence)
OPA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • 3-methylglutaconic aciduria, type III, MIM# 258501
Tags
Green Green List (high evidence)
OPA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
  • Optic atrophy 3 with cataract, 165300
  • 3-methylglutaconic aciduria type III, 258501
  • Costeff syndrome
Tags
Green Green List (high evidence)
OPDM1
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngodistal myopathy 1 MIM#164310
Tags
Green Green List (high evidence)
OPDM2
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngodistal myopathy 2 MIM#618940
Tags
Green Green List (high evidence)
OPDM4_RILPL1_CGG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy MONDO:0025193
Tags
Green Green List (high evidence)
OPDM_ABCD3_GCC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy MONDO:0025193
Tags
Green Green List (high evidence)
OPHN1
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
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Tags
Green Green List (high evidence)
OPTN
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)
Tags
Green Green List (high evidence)
ORAI1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, tubular aggregate, 2 (MIM#615883)
Tags
Green Green List (high evidence)
ORAI1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • tubular aggregate myopathy MONDO:0008051
Tags
Green Green List (high evidence)
PABPN1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • oculopharyngeal muscular dystrophy MONDO:0008116
Tags
Green Green List (high evidence)
PAX7
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Congenital myopathy 19 (MIM#618578)
Tags
Green Green List (high evidence)
PCYT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • global developmental delay
  • regression
  • spastic parapesis or tetraparesis
  • epilepsy
  • progressive cerebral and cerebellar atrophy
Tags
Green Green List (high evidence)
PCYT2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Spastic paraplegia 82, autosomal recessive, MIM# 618770
  • global developmental delay
  • regression
  • spastic parapesis or tetraparesis
  • epilepsy
  • progressive cerebral and cerebellar atrophy
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
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 23
  • Spinocerebellar ataxia 23, 610245
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)
PEX16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Zellweger syndrome (614876)
  • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
  • Peroxisome biogenesis disorder 8A, 614876
  • Peroxisome biogenesis disorder 8B, 614877
Tags
Green Green List (high evidence)
PEX7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 9B, MIM# 614879
Tags
Green Green List (high evidence)
PEX7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Refsum disease
  • Peroxisome biogenesis disorder 9B, MIM#614879
Tags
Green Green List (high evidence)
PFKM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease VII, MIM# 232800
Tags
Green Green List (high evidence)
PFN1
3 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PGAM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease X, MIM# 261670
Tags
Green Green List (high evidence)
PGK1
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphoglycerate kinase 1 deficiency 300653
  • MONDO:0010392
Tags
Green Green List (high evidence)
PGM1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type It, MIM# 614921
Tags
  • treatable
Green Green List (high evidence)
PHKA1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscle glycogenosis, MIM# 300559
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)
PHYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Refsum disease, MIM# 266500
Tags
Green Green List (high evidence)
PI4KA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental syndrome with hypomyelinating leukodystrophy
  • Spastic paraplegia 84, autosomal recessive, MIM# 619621
Tags
Green Green List (high evidence)
PIGS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert Review
Phenotypes
  • Developmental and epileptic encephalopathy 95, OMIM # 618143
Tags
Green Green List (high evidence)
PITRM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia-30 (SCAR30), MIM#619405
  • intellectual disability
  • cognitive decline
  • psychosis
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)
PLA2G6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal recessive Parkinson disease 14, 612953
  • Parkinson disease 14 (#612953)
  • Infantile neuroaxonal dystrophy 1 (#256600)
  • Infantile neuroaxonal dystrophy 1, 256600
  • Neurodegeneration with brain iron accumulation 2B (#610217)
  • Neurodegeneration with brain iron accumulation 2B, 610217
Tags
Green Green List (high evidence)
PLEC
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)
Tags
Green Green List (high evidence)
PLEC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • epidermolysis bullosa
  • congenital myasthenic syndrome
Tags
Green Green List (high evidence)
PLEC
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
Tags
Green Green List (high evidence)
PLEKHG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376
  • Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Tags
Green Green List (high evidence)
PLP1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 2, X-linked recessive, 312920
Tags
Green Green List (high evidence)
PLP1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 2, X-linked, MIM# 312920
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)
PMPCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Tags
Green Green List (high evidence)
PMPCB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 6, 617954
Tags
Green Green List (high evidence)
PNKD
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia 1, 118800
Tags
Green Green List (high evidence)
PNKP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Microcephaly, seizures and developmental delay, 613402
  • Ataxia-oculomotor apraxia 4, 616267
  • Ataxia with oculomotor apraxia 4 (#616267)
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)
PNPLA2
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutral lipid storage disease with myopathy MIM#610717
Tags
Green Green List (high evidence)
PNPLA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutral lipid storage disease with myopathy 610717
Tags
Green Green List (high evidence)
PNPLA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 39, autosomal recessive, 612020
Tags
Green Green List (high evidence)
PNPLA6
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
  • Boucher-Neuhauser syndrome, 215470
  • Sapstic paraplegia 39, 612020
  • Oliver-McFarlane syndrome (#603197)
  • Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
  • Oliver-McFarlane syndrome, 275400
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)
PNPLA6
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Boucher-Neuhauser syndrome MIM#215470
  • Laurence-Moon syndrome MIM#245800
  • Oliver-McFarlane syndrome MIM#275400
  • Spastic paraplegia 39, autosomal recessive MIM#612020
Tags
Green Green List (high evidence)
PNPLA8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related
Tags
Green Green List (high evidence)
POGLUT1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232)
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
  • Progressive external ophthalmoplegia, autosomal dominant 1 157640
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
  • Progressive external ophthalmoplegia, autosomal recessive 1 258450
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459
  • Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
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)
POLG
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
  • Mitochondrial recessive ataxia syndrome, 607459
  • Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662
  • autosomal recessive progressive external opthalmoplegia, 258450
  • autosomal dominant progressive external ophthalmoplegia, 157640
Tags
Green Green List (high evidence)
POLG2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia
Tags
  • deep intronic
Green Green List (high evidence)
POLR3A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal Recessive Ataxia
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694
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)
POLR3B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POMGNT2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POMGNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Tags
Green Green List (high evidence)
POMK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094
Tags
Green Green List (high evidence)
POMT1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POMT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POMT2
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POMT2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POPDC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848
Tags
Green Green List (high evidence)
POU4F1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ataxia
  • intention tremor
  • hypotonia
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)
PRDX3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Cerebellar ataxia (early onset, mild to moderate, progressive)
Tags
Green Green List (high evidence)
PRDX3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Cerebellar ataxia (early onset, mild to moderate, progressive)
Tags
Green Green List (high evidence)
PRKAG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Wolff-Parkinson-White syndrome 194200
  • Cardiomyopathy, hypertrophic 6 600858
  • Glycogen storage disease of heart, lethal congenital 261740
Tags
Green Green List (high evidence)
PRKCG
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
  • Spinocerebellar ataxia 14 MIM#605361
Tags
Green Green List (high evidence)
PRNP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple allelic disorders reported
  • Huntington disease-like 1
  • Autosomal Dominant Ataxia
  • Gerstmann-Straussler disease
  • Insomnia, fatal familial
  • Creutzfeldt-Jakob disease
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)
PRRT2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial infantile convulsions with paroxysmal dyskinesia 1, 602066
  • CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
  • episodic kinesigenic dyskinesia
  • dystonia and occasionally hemiplegic migraine and epilepsy
  • episodic kinesigenic dyskinesia, 128200
  • EPISODIC KINESIGENIC DYSKINESIA 1
  • SEIZURES, BENIGN FAMILIAL INFANTILE, 2
Tags
Green Green List (high evidence)
PRRT2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic kinesigenic dyskinesia 1 MIM#128200
  • Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066
  • Seizures, benign familial infantile, 2 MIM#605751
Tags
Green Green List (high evidence)
PRX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dejerine Sottas disease, autosomal recessive, 145900
  • Charcot Marie Tooth disease, type 4F, 614895
  • HMSN
Tags
Green Green List (high evidence)
PSEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822
Tags
Green Green List (high evidence)
PTRH2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263
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)
PUM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 47, 617931
Tags
Green Green List (high evidence)
PUS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553
Tags
Green Green List (high evidence)
PYGM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease V McArdle disease 232600 AR
Tags
Green Green List (high evidence)
PYROXD1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy, myofibrillar, 8, 617258
  • adult-onset limb girdle muscular dystrophy
Tags
Green Green List (high evidence)
PYROXD1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myofibrillar myopathy 8 MONDO:0014993
Tags
Green Green List (high evidence)
RAB3GAP2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Martsolf syndrome 212720
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)
RAD21
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities
Tags
Green Green List (high evidence)
RAPSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
  • acute respiratory crises
  • late and early onset
Tags
  • founder
  • SV/CNV
Green Green List (high evidence)
RBCK1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency 615895
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)
REEP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 31, autosomal dominant, MIM# 610250
Tags
Green Green List (high evidence)
REEP1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 31, autosomal dominant MIM#610250
Tags
Green Green List (high evidence)
REEP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 31, autosomal dominant, 610250
  • MONDO:0012453
Tags
Green Green List (high evidence)
REEP2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 72, dominant and recessive, MIM# 615625
  • MONDO:0014282
Tags
Green Green List (high evidence)
RET
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880
  • Multiple endocrine neoplasia IIA, MIM# 171400
  • Multiple endocrine neoplasia IIB, MIM# 162300
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Tags
  • STR
Green Green List (high evidence)
RFC4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010
Tags
Green Green List (high evidence)
RINT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary spastic paraplegia, MONDO:0019064, RINT1-related
Tags
Green Green List (high evidence)
RMND1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation defect type 11 MONDO:0013969
Tags
Green Green List (high evidence)
RNASEH2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aicardi Goutieres syndrome 2, MIM# 610181
Tags
Green Green List (high evidence)
RNF170
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 85, autosomal recessive, MIM# 619686
Tags
Green Green List (high evidence)
RNF170
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia, sensory, 1, autosomal dominant, MIM# 608984
Tags
Green Green List (high evidence)
RNF216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Tags
Green Green List (high evidence)
RNF216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and hypogonadotrophic hypogonadism
  • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Tags
Green Green List (high evidence)
RNF220
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688
  • Leukodystrophy
  • CNS hypomyelination
  • Ataxia
  • Intellectual disability
  • Sensorineural hearing impairment
  • Elevated hepatic transaminases
  • Hepatic fibrosis
  • Dilated cardiomyopathy
  • Spastic paraplegia
  • Dysarthria
  • Abnormality of the corpus callosum
Tags
  • founder
Green Green List (high evidence)
RNU7-1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aicardi-Goutieres syndrome 9, MIM# 619487
Tags
Green Green List (high evidence)
RORA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 7, MIM# 611560
Tags
Green Green List (high evidence)
RRM2B
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Tags
Green Green List (high evidence)
RRM2B
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077
Tags
Green Green List (high evidence)
RTN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 12, autosomal dominant, 604805
  • MONDO:0011489
Tags
Green Green List (high evidence)
RTN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 12, autosomal dominant, 604805
  • MONDO:0011489
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)
RUBCN
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital Clinical Genetics Department
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Tags
Green Green List (high evidence)
RYR1
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • {Malignant hyperthermia susceptibility 1}, 145600
  • Central core disease, 117000
  • King-Denborough syndrome, 145600
  • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
  • Minicore myopathy with external ophthalmoplegia, 255320
Tags
Green Green List (high evidence)
RYR1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • calf predominant distal myopathy
  • distal myopathy MONDO:0018949
Tags
Green Green List (high evidence)
RYR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Malignant hyperthermia
Tags
Green Green List (high evidence)
RYR1
3 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Central core disease (MIM#117000)
  • Minicore myopathy with external ophthalmoplegia (MIM#255320)
  • Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)
Tags
Green Green List (high evidence)
SACS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type MIM#270550
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)
SACS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, 270550
  • MONDO:0010041
Tags
  • SV/CNV
Green Green List (high evidence)
SACS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type
  • Charlevoix-Saguenay spastic ataxia, 270550
Tags
Green Green List (high evidence)
SACS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • MIRAGE syndrome, MIM# 617053
Tags
Green Green List (high evidence)
SAMD9L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 49, MIM# 619806
  • Ataxia-pancytopaenia syndrome, MIM# 159550
Tags
Green Green List (high evidence)
SAMHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aicardi Goutieres syndrome 5, MIM# 612952
Tags
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)
SBMA
STR
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Tags
  • STR
Green Green List (high evidence)
SCA1
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 1 MIM#164400
Tags
  • STR
Green Green List (high evidence)
SCA10
STR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 10 MIM#603516
Tags
  • STR
Green Green List (high evidence)
SCA12
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 12 MIM#604326
Tags
Green Green List (high evidence)
SCA17
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
  • STR
Green Green List (high evidence)
SCA2
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 2 MIM#183090
Tags
Green Green List (high evidence)
SCA2
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2 MIM#183090
Tags
  • STR
Green Green List (high evidence)
SCA27B
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia type 27B MONDO:0012247
  • Spinocerebellar ataxia 50
  • late-onset cerebellar ataxias (LOCAs)
Tags
Green Green List (high evidence)
SCA3
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Machado-Joseph disease MIM#109150
  • Spinocerebellar ataxia type 3
Tags
  • STR
Green Green List (high evidence)
SCA31
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 31 MIM#117210
Tags
  • STR
Green Green List (high evidence)
SCA36
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 36 MIM#614153
Tags
  • STR
Green Green List (high evidence)
SCA37
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 37 MIM#615945
Tags
  • STR
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)
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)
SCA6
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 6 MIM#183086
  • Episodic ataxia, type 2 MIM#108500
Tags
  • STR
Green Green List (high evidence)
SCA7
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 7 MIM#164500
Tags
  • STR
Green Green List (high evidence)
SCA8
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 8 MIM#608768
Tags
  • STR
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
  • Expert list
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
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)
SCN1A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Tags
Green Green List (high evidence)
SCN2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Early infantile epileptic encephalopathy 11, MIM# 613721
Tags
Green Green List (high evidence)
SCN4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperkalemic Periodic Paralysis
  • Hypokalemic periodic paralysis, type 2, 613
  • Thyrotoxic Periodic Paralysis, Susceptibility To, 2
  • Hypokalemic Periodic Paralysis
  • Episodic weakness
  • Myotonia
  • Potassium-Aggravated Myotonia
  • Hyperkalemic periodic paralysis, type 2, 170500
  • Myasthenic syndrome, acetazolamide-responsive, 614198
Tags
Green Green List (high evidence)
SCN4A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 16, 614198
Tags
Green Green List (high evidence)
SCN4A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Paramyotonia congenita, 168300
  • Myotonia congenita, atypical, acetazolamide-responsive, 608390
  • Hypokalemic periodic paralysis, type 2, 613345
  • Myasthenic syndrome, congenital, 16, 614198
  • Hyperkalemic periodic paralysis, type 2, 170500
Tags
Green Green List (high evidence)
SCN8A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epileptic encephalopathy 13, 614558
  • Cognitive impairment with or without cerebellar ataxia, 614306
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
  • Other
  • Expert Review
Phenotypes
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451
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)
SCYL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21, 616719
  • Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Tags
Green Green List (high evidence)
SELENON
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, rigid spine, 1 (MIM#602771)
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)
SERAC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
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)
SETX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)
Tags
Green Green List (high evidence)
SETX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002
Tags
Green Green List (high evidence)
SETX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal recessive spinocerebellar ataxia type 1, 606002
  • ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
  • Ataxia-ocular apraxia-2
Tags
Green Green List (high evidence)
SGCA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Tags
Green Green List (high evidence)
SGCA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy, limb-girdle, type 2D, 608099
  • autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Tags
Green Green List (high evidence)
SGCB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2E, 604286
Tags
Green Green List (high evidence)
SGCD
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2F, 601287
Tags
Green Green List (high evidence)
SGCG
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2C, 253700
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)
SHMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121
  • Congenital microcephaly
  • Infantile axial hypotonia
  • Spastic paraparesis
  • Global developmental delay
  • Intellectual disability
  • Abnormality of the corpus callosum
  • Abnormal cortical gyration
  • Hypertrophic cardiomyopathy
  • Abnormality of the face
  • Proximal placement of thumb
  • 2-3 toe syndactyly
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)
SIGMAR1
3 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
SIL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Green Green List (high evidence)
SIL1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Marinesco-Sjogren syndrome (MIM#248800)
Tags
Green Green List (high evidence)
SIL1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Marinesco-Sjogren syndrome 248800
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)
SLC13A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)
Tags
Green Green List (high evidence)
SLC16A2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Allan-Herndon-Dudley syndrome, 300523, XL
Tags
Green Green List (high evidence)
SLC17A5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Salla disease
  • Sialic acid storage disease, severe infantile type, MIM# 269920
Tags
Green Green List (high evidence)
SLC18A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ophthalmopleggia and apnea
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
Tags
Green Green List (high evidence)
SLC1A3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6 MIM#612656
Tags
Green Green List (high evidence)
SLC1A3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6
  • Episodic ataxia type 6, 612656
Tags
Green Green List (high evidence)
SLC1A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
  • MONDO:0014725
Tags
  • founder
Green Green List (high evidence)
SLC22A5
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
Phenotypes
  • Carnitine deficiency, systemic primary 212140
Tags
  • treatable
Green Green List (high evidence)
SLC25A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ?Myasthenic syndrome, congenital, 23, presynaptic
  • 618197
Tags
Green Green List (high evidence)
SLC25A15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970
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)
SLC25A20
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency MIM#212138
Tags
Green Green List (high evidence)
SLC25A32
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • Exercise intolerance, riboflavin-responsive MONDO:0014795
Tags
Green Green List (high evidence)
SLC25A4
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418
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)
SLC25A46
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary motor and sensory neuropathy type VIB, MIM#616505
  • Pontocerebellar hypoplasia, type 1E, MIM# 619303
Tags
Green Green List (high evidence)
SLC2A1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • dystonia 9
  • GLUT1 deficiency syndrome 2, 612126
  • GLUT1 DEFICIENCY SYNDROME 1
  • paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
  • GLUT1 deficiency syndrome 1, 606777
  • Dystonia 9, 601042
  • EPILEPSY, IDIOPATHIC GENERALIZED
Tags
Green Green List (high evidence)
SLC2A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777
  • Developmental delay
  • autosomal dominant, complicated hereditary spastic paraplegia (HSP)
  • paroxysmal choreoathetosis
  • spastic paraplegia
  • seizure
Tags
Green Green List (high evidence)
SLC44A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Childhood-onset neurodegeneration
  • progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Tags
Green Green List (high evidence)
SLC4A10
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746
Tags
Green Green List (high evidence)
SLC52A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Bwon-Vialetto-Van Laere syndrome 2, 614707
Tags
Green Green List (high evidence)
SLC52A2
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
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)
SLC52A2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brown-Vialetto-van Laere syndrome 2 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)
SLC52A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Tags
Green Green List (high evidence)
SLC52A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amytrophic Lateral Sclerosis (ALS)
  • Brown-Vialetto-van Laere syndrome 1 (MIM# 211530)
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 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, 617143
  • Hereditory motor neuropathy
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)
SLC9A6
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, 300243
Tags
Green Green List (high evidence)
SMCHD1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Facioscapulohumeral muscular dystrophy MONDO:0001347
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)
SMN1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy-1, MIM# 253300
Tags
Green Green List (high evidence)
SMPX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075
Tags
Green Green List (high evidence)
SNAP25
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330
  • cerebellar ataxia and seizures
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)
SNAPC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515
Tags
Green Green List (high evidence)
SNUPN
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793
Tags
Green Green List (high evidence)
SNUPN
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793
Tags
Green Green List (high evidence)
SNX14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 20, 616354
  • Autosomal recessive spinocerebellar ataxia (#616354)
Tags
Green Green List (high evidence)
SOD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic tetraplegia and axial hypotonia, progressive, MIM#618598
Tags
Green Green List (high evidence)
SOD1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 1 (105400 AD, AR)
  • Spastic tetraplegia and axial hypotonia, progressive (618598 AR)
Tags
  • treatable
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
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • PCWH syndrome, MIM# 609136
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)
SPART
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
SPART
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Troyer syndrome, MIM# 275900
  • SPG20
  • MONDO:0010156
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, 182601
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)
SPAST
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, MIM# 182601
Tags
Green Green List (high evidence)
SPAST
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
SPEG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 5, MIM# 615959
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)
SPG11
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 11, autosomal recessive, MIM# 604360
Tags
Green Green List (high evidence)
SPG11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099
Tags
Green Green List (high evidence)
SPG11
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 11, autosomal recessive, MIM# 604360
Tags
Green Green List (high evidence)
SPG21
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mast syndrome, 248900
  • Spastic Paraplegia, autosomal recessive
Tags
  • new gene name
Green Green List (high evidence)
SPG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, 607259
  • MONDO:0011803
Tags
Green Green List (high evidence)
SPG7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 7, autosomal recessive MIM#607259
Tags
Green Green List (high evidence)
SPG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, MIM# 607259
Tags
Green Green List (high evidence)
SPG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
  • Autosomal recessive spastic paraplegia 7, 607259
Tags
Green Green List (high evidence)
SPR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Tags
Green Green List (high evidence)
SPTAN1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic Paraplegia MONDO:0019064, SPTAN1-related
  • Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538
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)
SPTBN2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
  • Spinocerebellar ataxia 5, MIM# 600224
Tags
Green Green List (high evidence)
SPTBN2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 5, 600224
  • Spinocerebellar ataxia, autosomal recessive 14, 615386
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
  • Literature
Phenotypes
  • juvenile amyotrophic lateral sclerosis MONDO:0017593
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)
SQSTM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Tags
Green Green List (high evidence)
SRD5A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Kahrizi syndrome, 612713
  • Congenital disorder of glycosylation, type Iq, 612379
  • Congenital disorder of glycosylation type Iq, 612379
Tags
Green Green List (high evidence)
SRPK3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related
Tags
  • digenic
Green Green List (high evidence)
STAC3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Congenital myopathy 13 (MIM#255995)
Tags
Green Green List (high evidence)
STIM1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, tubular aggregate, 1 (MIM#160565)
  • Stormorken syndrome (MIM#185070)
Tags
Green Green List (high evidence)
STIM1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • tubular aggregate myopathy MONDO:0008051
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)
STUB1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 48, MIM#618093
Tags
Green Green List (high evidence)
STUB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Tags
Green Green List (high evidence)
SUCLA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Tags
Green Green List (high evidence)
SUCLG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review
Phenotypes
  • mitochondrial DNA depletion syndrome 9 MONDO:0009504
Tags
Green Green List (high evidence)
SUFU
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • congenital ocular motor apraxia (forme fruste of Joubert syndrome)
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)
SVBP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Tags
  • founder
Green Green List (high evidence)
SYNE1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Tags
Green Green List (high evidence)
SYNE1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Tags
Green Green List (high evidence)
SYNE1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Tags
Green Green List (high evidence)
SYNE1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 8
  • Cerebellar Ataxia
  • Autosomal recessive spinocerebellar ataxia type 8
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)
SYT2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461
Tags
Green Green List (high evidence)
TAMM41
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139
Tags
Green Green List (high evidence)
TANGO2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Tags
Green Green List (high evidence)
TARDBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 10, with or without FTD
  • Frontotemporal lobar degeneration, TARDBP-related (MIM#612069
  • MONDO: 0012790)
Tags
Green Green List (high evidence)
TAZ
3 reviews
3 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Barth syndrome MIM#302060
Tags
Green Green List (high evidence)
TBC1D23
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pontocerebellar hypoplasia type 11, 617695
Tags
Green Green List (high evidence)
TBCE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Encephalopathy, progressive, with amyotrophy and optic atrophy 617207
Tags
Green Green List (high evidence)
TBCE
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207
Tags
Green Green List (high evidence)
TBK1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 4 (MIM#616439
  • MONDO:0011223)
Tags
Green Green List (high evidence)
TCAP
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2G, 601954
Tags
Green Green List (high evidence)
TCTN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 13, MIM# 614173
Tags
Green Green List (high evidence)
TCTN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 24, MIM# 616654
Tags
Green Green List (high evidence)
TCTN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 18, MIM# 614815
  • Orofaciodigital syndrome IV, MIM# 258860
Tags
Green Green List (high evidence)
TDP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 23
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, 615031
  • Autonomic-sensory neuropathy
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 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 57, autosomal recessive, MIM# 615658
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)
THG1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebellar ataxia with developmental delay
Tags
Green Green List (high evidence)
TINF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal dominant dyskeratosis congenita 3, 613990
  • Revesz syndrome, 268130
Tags
Green Green List (high evidence)
TK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
Green Green List (high evidence)
TMEM106B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypomyelinating leukodystrophy 16, 617964
Tags
Green Green List (high evidence)
TMEM126B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633
Tags
Green Green List (high evidence)
TMEM216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 2, MIM# 608091
Tags
Green Green List (high evidence)
TMEM237
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 14, MIM# 614424
Tags
Green Green List (high evidence)
TMEM240
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 21, MIM# 607454
Tags
Green Green List (high evidence)
TMEM240
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 21, 607454
Tags
Green Green List (high evidence)
TMEM5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Tags
Green Green List (high evidence)
TMEM63C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 87, autosomal recessive, MIM# 619966
Tags
Green Green List (high evidence)
TMEM67
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 6, MIM# 610688
Tags
Green Green List (high evidence)
TNNT1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 5 MONDO:0011539
  • Nemaline myopathy MONDO:0018958
Tags
Green Green List (high evidence)
TNNT3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline myopathy MONDO:0018958
Tags
Green Green List (high evidence)
TNPO3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
Tags
Green Green List (high evidence)
TOR1AIP1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072
  • Progeroid appearance
  • Cataracts
  • Microcephaly
  • Deafness
  • Contractures
Tags
Green Green List (high evidence)
TPM2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Nemaline myopathy 4, autosomal dominant (MIM#609285)
Tags
Green Green List (high evidence)
TPM3
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Congenital myopathy 4A, autosomal dominant (MIM#255310)
  • Congenital myopathy 4B, autosomal recessive (MIM#609284)
Tags
Green Green List (high evidence)
TPP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 7, 609270
  • Neuronal ceroid lipofuscinosis, 204500
  • Spinocerebellar ataxia, autosomal recessive 7, 609270
  • Ceroid lipofuscinosis, neuronal, 2, 204500
Tags
Green Green List (high evidence)
TRAPPC11
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356)
Tags
Green Green List (high evidence)
TRAPPC11
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2S, 615356
Tags
Green Green List (high evidence)
TRDN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
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)
TRIM32
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H, 254110
Tags
Green Green List (high evidence)
TRIP4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066)
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)
TSFM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Combined oxidative phosphorylation deficiency 3
Tags
Green Green List (high evidence)
TSFM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Tags
Green Green List (high evidence)
TSPOAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, intellectual disability and cerebellar atrophy
Tags
Green Green List (high evidence)
TTBK2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 11, 604432
  • Spinocerebellar ataxia 11
Tags
Green Green List (high evidence)
TTC19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex III deficiency nuclear type II, 615157
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Green Green List (high evidence)
TTI1
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Tags
Green Green List (high evidence)
TTN
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert Review
Phenotypes
  • TTN-related myopathy MONDO:0100175
Tags
  • digenic
Green Green List (high evidence)
TTN
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • dilated cardiomyopathy
  • Distal myopathy
  • HMERF
  • Myofibrillar myopathy
  • Congenital myopathy
  • Muscular dystrophy, limb-girdle, type 2J, 608807
  • arthrogryposis
Tags
Green Green List (high evidence)
TTPA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia with isolated vitamin E deficiency
  • Ataxia with Vitamin E Deficiency
  • Ataxia with isolated vitamin E deficiency, 277460
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)
TTPA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ataxia with isolated vitamin E deficiency, MIM# 277460
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)
TUBA4A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208
Tags
Green Green List (high evidence)
TUBA4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary ataxia MONDO:0100309, TUBA4A-related
Tags
Green Green List (high evidence)
TUBA4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary ataxia MONDO:0100309, TUBA4A-related
Tags
Green Green List (high evidence)
TUBA4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary ataxia MONDO:0100309, TUBA4A-related
Tags
Green Green List (high evidence)
TUBA4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary ataxia MONDO:0100309, TUBA4A-related
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)
TUBB4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, 612438
  • Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438
  • Dystonia 4, torsion, autosomal dominant, 128101
Tags
Green Green List (high evidence)
TUBB4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, MIM# 612438
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)
TWNK
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286
Tags
Green Green List (high evidence)
TWNK
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 7, 271245
  • Ataxia Neuropathy Spectrum Disorders, Dominant
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
  • Perrault syndrome 5, 616138
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
  • Spinocerebellar Ataxia, Recessive
Tags
Green Green List (high evidence)
TYMP
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
  • MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
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)
UBAP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood-onset hereditary spastic paraplegia
  • Spastic paraplegia 80, autosomal dominant 618418
Tags
Green Green List (high evidence)
UBAP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 80, autosomal dominant 618418
Tags
Green Green List (high evidence)
UBQLN2
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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis type 15 (MONDO:0010459
  • MIM#300857)
Tags
Green Green List (high evidence)
UBTF
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672
  • MONDO:0044701
Tags
Green Green List (high evidence)
UCHL1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 79A, autosomal dominant, MIM# 620221
  • Spastic paraplegia 79, autosomal recessive, 615491
  • MONDO:0014209
  • Neurodegenerative disease, MONDO:0005559, UCHL1-related
Tags
Green Green List (high evidence)
UCHL1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 79, autosomal recessive, MIM#615491
  • Neurodegenerative disease, MONDO:0005559, UCHL1-related
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)
UNC45B
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Tags
Green Green List (high evidence)
UNC45B
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Literature
Phenotypes
  • Myofibrillar myopathy 11 (MIM#619178)
Tags
Green Green List (high evidence)
VAMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • presynaptic CMS
  • Myasthenic syndrome, congenital, 25, MIM# 618323
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)
VAPB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980)
  • Amyotrophic lateral sclerosis 8
Tags
  • founder
Green Green List (high evidence)
VCP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Tags
Green Green List (high evidence)
VCP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954)
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)
VLDLR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Tags
Green Green List (high evidence)
VMA21
2 reviews
 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 Review
Phenotypes
  • Myopathy, X-linked, with excessive autophagy (MIM#310440)
Tags
  • deep intronic
Green Green List (high evidence)
VPS13A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • chorea-acanthocytosis MONDO:0008695
Tags
Green Green List (high evidence)
VPS13D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Tags
Green Green List (high evidence)
VPS13D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, 607317
Tags
Green Green List (high evidence)
VPS41
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia-29 (SCAR29), MIM#619389
  • Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
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)
WARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Parkinsonism-dystonia 3, childhood-onset, MIM# 619738
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710
Tags
Green Green List (high evidence)
WASHC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 8, autosomal dominant, 603563
  • MONDO:0011339
Tags
Green Green List (high evidence)
WDR45B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM#617977
Tags
Green Green List (high evidence)
WDR73
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
  • Galloway-Mowat Syndrome 1, 251300
Tags
Green Green List (high evidence)
WDR81
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital hydrocephalus 3 with brain anomalies, 617967
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
  • Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185
Tags
Green Green List (high evidence)
WFS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Wolfram syndrome 1, 222300
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)
WWOX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12, 6143232
  • Early infantile epileptic encephalopathy 28, 616211
  • Autosomal recessive spinocerebellar ataxia 12, 614322
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
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
  • Autosomal recessive spinocerebellar ataxia 26, 617633
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
  • founder
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)
YARS2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561
Tags
Green Green List (high evidence)
ZFYVE26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, 270700
  • MONDO:0010044
Tags
Green Green List (high evidence)
ZFYVE26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, MIM# 270700
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)
AAAS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome MIM#231550
  • complicated hereditary spastic paraplegia
Tags
Amber Amber List (moderate evidence)
ACADVL
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • VLCAD deficiency 201475
Tags
Amber Amber List (moderate evidence)
ACBD5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy
  • syndromic cleft palate
  • ataxia
  • retinal dystrophy
Tags
Amber Amber List (moderate evidence)
ALG14
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Tags
Amber Amber List (moderate evidence)
ALG14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital myopathy MONDO:0019952
Tags
Amber Amber List (moderate evidence)
ALG2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Tags
  • founder
Amber Amber List (moderate evidence)
ALK
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic-dystonic diplegia
Tags
Amber Amber List (moderate evidence)
ANG
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753
  • MIM#611895)
Tags
Amber Amber List (moderate evidence)
ANXA11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Inclusion body myopathy and brain white matter abnormalities, MIM# 619733
Tags
Amber Amber List (moderate evidence)
AP5Z1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, MIM# 613647
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
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease MONDO:0015626
Tags
Amber Amber List (moderate evidence)
ASPH
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exertional heat illness
  • malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related
Tags
Amber Amber List (moderate evidence)
ATG5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Spinocerebellar ataxia, autosomal recessive 25
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)
ATP2B3
2 reviews
 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
  • Expert list
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
Tags
Amber Amber List (moderate evidence)
ATP2B4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Pure and complicated hereditary spastic paraplegia
Tags
Amber Amber List (moderate evidence)
B3GNT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy
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)
BET1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, congenital, with rapid progression, MIM# 254100
Tags
Amber Amber List (moderate evidence)
BICD2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291
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)
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)
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)
CAPN3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 1 253600
Tags
Amber Amber List (moderate evidence)
CASQ1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • tubular aggregate myopathy MONDO:0008051
Tags
Amber Amber List (moderate evidence)
CCDC78
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Centronuclear Myopathy (MIM#614807
  • MONDO: 0018947)
Tags
Amber Amber List (moderate evidence)
CCDC88C
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant spinocerebellar ataxia
  • ?Spinocerebellar ataxia 40, 616053
Tags
Amber Amber List (moderate evidence)
CCDC88C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Early-onset pure hereditary spastic paraplegia
Tags
Amber Amber List (moderate evidence)
CCNF
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
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)
CHKB
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • megaconial type congenital muscular dystrophy MONDO:0011246
  • CHKB-Related Muscular Dystrophy
Tags
Amber Amber List (moderate evidence)
CHKB
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • megaconial type congenital muscular dystrophy MONDO:0011246
  • recurrent rhabdomyolysis
  • CHKB-Related Muscular Dystrophy
Tags
Amber Amber List (moderate evidence)
CHMP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related
Tags
Amber Amber List (moderate evidence)
CHP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic ataxia 9, autosomal recessive, OMIM #618438
Tags
Amber Amber List (moderate evidence)
CHP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic ataxia 9, autosomal recessive, OMIM #618438
Tags
Amber Amber List (moderate evidence)
CHRNA1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital myopathy MONDO:0019952
Tags
Amber Amber List (moderate evidence)
CNTN1
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929
  • MIM#612540)
Tags
Amber Amber List (moderate evidence)
COL4A1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773
  • Brain small vessel disease with or without ocular anomalies MIM#175780
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564
Tags
Amber Amber List (moderate evidence)
COL9A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 2 MIM#600204
Tags
Amber Amber List (moderate evidence)
COL9A3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969
Tags
Amber Amber List (moderate evidence)
COMP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 MIM#132400
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)
CRYAB
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 2, MIM# 608810
Tags
Amber Amber List (moderate evidence)
CYLD
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
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)
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
  • Expert Review Green
  • Expert Review Amber
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, axonal, type 2Q, 615025
  • 2 aminoadipic 2 oxoadipic aciduria, 204750
Tags
Amber Amber List (moderate evidence)
DNAJC7
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • amyotrophic lateral sclerosis
Tags
Amber Amber List (moderate evidence)
DNMT3B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Facioscapulohumeral muscular dystrophy MONDO:0001347
Tags
Amber Amber List (moderate evidence)
DPM2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iu, MIM# 615042
Tags
Amber Amber List (moderate evidence)
DSTYK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 23, MIM#270750
Tags
  • founder
  • SV/CNV
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)
ERBB4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 19 MIM#615515
Tags
Amber Amber List (moderate evidence)
ETFB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric acidemia IIB 231680
Tags
Amber Amber List (moderate evidence)
ETFDH
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
Phenotypes
  • Glutaric acidemia IIC 231680
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
  • Complicated hereditary spastic paraplegia
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)
FDXR
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy and optic atrophy, 617717
  • Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Tags
Amber Amber List (moderate evidence)
FIG4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945
  • MIM#612577)
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)
GJC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804, AR
  • Spastic paraplegia 44, autosomal recessive 613206, AR
Tags
Amber Amber List (moderate evidence)
GJC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 44, autosomal recessive, MIM# 613206
Tags
Amber Amber List (moderate evidence)
GLT8D1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
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)
HARS
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • multisystem ataxic syndrome
Tags
Amber Amber List (moderate evidence)
HNRNPA2B1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976
Tags
Amber Amber List (moderate evidence)
HRAS
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
  • Expert Review Amber
Phenotypes
  • Congenital myopathy with excess of muscle spindles (MIM#218040)
Tags
Amber Amber List (moderate evidence)
HSPD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, MIM# 605280
Tags
Amber Amber List (moderate evidence)
IRF2BPL
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
Tags
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)
KCNQ2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Early infantile encephalopathy 7, 613720
  • Myokymia, 121200
Tags
Amber Amber List (moderate evidence)
KLHL9
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal myopathy MONDO:0018949
Tags
Amber Amber List (moderate evidence)
LAMP2
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 Review Amber
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Danon disease (MIM#300257)
Tags
Amber Amber List (moderate evidence)
LGALSL
1 review
 Unknown
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976
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)
LMOD1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
Tags
Amber Amber List (moderate evidence)
LPIN1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert Review
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200)
Tags
Amber Amber List (moderate evidence)
LRIF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Facioscapulohumeral muscular dystrophy MONDO:0001347
Tags
Amber Amber List (moderate evidence)
LYST
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • spastic paraplegia
  • Spastic paraplegia
  • Chediak-Higashi syndrome, 214500
Tags
Amber Amber List (moderate evidence)
MAMDC2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular Dystrophy MONDO:0020121, MAMDC2-related
Tags
Amber Amber List (moderate evidence)
MAMDC2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular Dystrophy MONDO:0020121, MAMDC2-related
Tags
Amber Amber List (moderate evidence)
MAPK8IP3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Tags
Amber Amber List (moderate evidence)
MARS
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 70, autosomal recessive, MIM# 620323
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)
MKKS
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 6, 605231
Tags
Amber Amber List (moderate evidence)
MTCL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • spinocerebellar ataxia
Tags
Amber Amber List (moderate evidence)
MTMR14
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • Expert Review Amber
  • Expert list
Phenotypes
  • {Centronuclear myopathy, autosomal, modifier of} (MIM#160150)
Tags
Amber Amber List (moderate evidence)
MTPAP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Ataxia, spastic, 4,
  • Autosomal recessive spastic ataxia 4, 613672
Tags
Amber Amber List (moderate evidence)
MYL1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • NHS GMS
Phenotypes
  • Congenital Myopathy 14 (MIM#618414)
Tags
Amber Amber List (moderate evidence)
MYLK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210
Tags
Amber Amber List (moderate evidence)
MYO9A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Congenital myasthenic syndrome 24, presynaptic 618198
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)
NRG1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hirschsprung disease
Tags
Amber Amber List (moderate evidence)
PACSIN3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, PACSIN3-related
Tags
Amber Amber List (moderate evidence)
PACSIN3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, PACSIN3-related
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)
PDCL3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • megacystis-microcolon
Tags
Amber Amber List (moderate evidence)
PFKM
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Glycogen storage disease VII (MIM#232800)
Tags
Amber Amber List (moderate evidence)
PLD3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • ?Spinocerebellar ataxia 46
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
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Tags
Amber Amber List (moderate evidence)
PNPLA6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 39, autosomal recessive, MIM# 612020
Tags
Amber Amber List (moderate evidence)
PNPT1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinocerebellar ataxia 25, MIM# 608703
Tags
Amber Amber List (moderate evidence)
POGLUT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, MONDO:0020121, POGLUT1-related
Tags
Amber Amber List (moderate evidence)
POMK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
Tags
Amber Amber List (moderate evidence)
PREPL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency
  • ?Myasthenic syndrome, congenital, 22, 616224
Tags
Amber Amber List (moderate evidence)
PRKCG
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Spinocerebellar ataxia 14, MIM# 605361
Tags
Amber Amber List (moderate evidence)
PRPH
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Tags
Amber Amber List (moderate evidence)
PRPS1
3 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 Amber
  • Literature
Phenotypes
  • Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy
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)
PYGM
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • McArdle disease (MIM#232600)
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)
RFXANK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Progressive Ataxia and Neurologic Regression
  • MHC class II deficiency, complementation group B MIM#209920
Tags
Amber Amber List (moderate evidence)
RNF13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Amber Amber List (moderate evidence)
SDHA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
Tags
Amber Amber List (moderate evidence)
SEC31A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651
  • congenital neurodevelopmental syndrome
  • spastic paraplegia
  • multiple contractures
  • profound developmental delay
  • epilepsy
  • failure to thrive
Tags
Amber Amber List (moderate evidence)
SELENOI
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 81, autosomal recessive 618768
  • developmental delay
  • spasticity
  • periventricular white mater abnormalities
  • peripheral neuropathy
  • seizures
  • bifid uvula in some affected individuals
Tags
Amber Amber List (moderate evidence)
SGO1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Chronic atrial and intestinal dysrhythmia, MIM# 616201
Tags
  • founder
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)
SLC52A1
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Maternal riboflavin deficiency MONDO:0014013
Tags
Amber Amber List (moderate evidence)
SLC9A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Lichtenstein-Knorr Syndrome, MIM# 616291
Tags
Amber Amber List (moderate evidence)
SOX10
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Neurocristopathy
  • PCWH syndrome, MIM#609136
  • Complicated hereditary spastic paraplegia
Tags
Amber Amber List (moderate evidence)
SPTSSA
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic paraplegia 90B, autosomal recessive , MIM# 620417
  • Spastic paraplegia 90A, autosomal dominant, MIM# 620416
Tags
Amber Amber List (moderate evidence)
SQSTM1
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • myopathy, distal, with rimmed vacuoles MONDO:0014945
  • multisystem proteinopathy
Tags
Amber Amber List (moderate evidence)
SQSTM1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640
Tags
Amber Amber List (moderate evidence)
SS18L1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • amyotrophic lateral sclerosis (MONDO:0004976)
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)
SVIL
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Expert Review Amber
  • Literature
Phenotypes
  • Myofibrillar myopathy 10 (MIM#619040)
Tags
Amber Amber List (moderate evidence)
SYNGAP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal dominant mental retardation 5, 612621
Tags
Amber Amber List (moderate evidence)
TAF15
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
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)
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)
TIA1
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal myopathy, Welander type MONDO:0011466
Tags
Amber Amber List (moderate evidence)
TIA1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133
Tags
Amber Amber List (moderate evidence)
TMEM138
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 16, MIM# 614465
Tags
Amber Amber List (moderate evidence)
TMEM231
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 20, MIM# 614970
  • Meckel syndrome 11 615397
Tags
Amber Amber List (moderate evidence)
TMEM43
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677
Tags
Amber Amber List (moderate evidence)
TNNC2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital Myopathy 15 (MIM#62016)
Tags
Amber Amber List (moderate evidence)
TNNT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 5, Amish type MIM#605355
Tags
Amber Amber List (moderate evidence)
TOR1AIP1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Congenital myasthenic syndrome
Tags
Amber Amber List (moderate evidence)
TRPC3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Tags
Amber Amber List (moderate evidence)
TRPV1
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Exertional heat stroke
  • rhabdomyolysis
Tags
Amber Amber List (moderate evidence)
TUBA4A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital myopathy MONDO:0019952
Tags
Amber Amber List (moderate evidence)
TUBB4A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • ataxia
  • Leukodystrophy, hypomyelinating, 612438 AD
  • Dystonia 4, torsion, autosomal dominant, 128101
Tags
Amber Amber List (moderate evidence)
UBA5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypomyelinating neuropathy
Tags
Amber Amber List (moderate evidence)
UBA5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • ?Autosomal recessive spinocerebellar ataxia 24, 617133
  • Early infantile epileptic encephalopathy 44, 617132
Tags
Amber Amber List (moderate evidence)
UBQLN4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Amber Amber List (moderate evidence)
UBR4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Episodic ataxia
  • Episodic ataxia type 8, 616055
Tags
Amber Amber List (moderate evidence)
UNC80
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Tags
Amber Amber List (moderate evidence)
USP8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Complicated hereditary spastic paraplegia
Tags
Amber Amber List (moderate evidence)
VAMP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 1, autosomal dominant, 108600
Tags
  • founder
Amber Amber List (moderate evidence)
VAMP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal dominant spastic ataxia 1, 108600
  • Spastic ataxia 1, autosomal dominant, 108600
Tags
  • founder
Amber Amber List (moderate evidence)
VAMP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic ataxia 1, autosomal dominant, MIM# 108600
Tags
  • founder
Amber Amber List (moderate evidence)
VPS37A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR
Tags
Amber Amber List (moderate evidence)
VRK1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia type 1A, 607596
Tags
Amber Amber List (moderate evidence)
VRK1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia
  • Distal hereditary motor neuropathy
  • dHMN/dSMA
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
Amber Amber List (moderate evidence)
ZFYVE26
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal recessive spastic paraplegia 15, 270700
Tags
Red Red List (low evidence)
ACOX1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Pseudoneonatal adrenoleukodystrophy
Tags
Red Red List (low evidence)
AIFM1
2 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
AMACR
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • rhabdomyolysis
Tags
Red Red List (low evidence)
AMPD1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy due to myoadenylate deaminase deficiency 615511
  • Rhabdomyolysis
Tags
  • disputed
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)
AMPD2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 63 MIM#615686
Tags
Red Red List (low evidence)
AMPD2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 9, 615809
Tags
Red Red List (low evidence)
ARL6
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 3, 600151
Tags
Red Red List (low evidence)
ARMC9
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 30, MIM#617622
Tags
Red Red List (low evidence)
ARPP21
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976
Tags
Red Red List (low evidence)
ARSI
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Childhood onset spastic paraplegia
Tags
Red Red List (low evidence)
ASAH1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Tags
Red Red List (low evidence)
ATP1A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Hereditary spastic paraplegia
Tags
Red Red List (low evidence)
ATP1A2
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Alternating hemiplegia of childhood 1, 104290
  • Familial hemiplegic migraine 2, 602481
Tags
Red Red List (low evidence)
ATP1A2
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Hypokalaemic periodic paralysis
Tags
Red Red List (low evidence)
ATP7A
3 reviews
2 green 1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, distal, X-linked 3, 300489
Tags
Red Red List (low evidence)
ATP7B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Wilson disease 277900
  • Wilson disease, 277900
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)
BBS10
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 10, 615987
Tags
Red Red List (low evidence)
BBS12
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 12, 615989
Tags
Red Red List (low evidence)
BBS2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 2, 615981
Tags
Red Red List (low evidence)
BBS4
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 4, 615982
Tags
Red Red List (low evidence)
BBS5
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 5, 615983
Tags
Red Red List (low evidence)
BBS7
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 7, 615984
Tags
Red Red List (low evidence)
BBS9
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 9, 615986
Tags
Red Red List (low evidence)
BICD2
3 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Tags
Red Red List (low evidence)
CACNB1
2 reviews
1 red 		Not set
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Malignant hyperthermia susceptibility
Tags
Red Red List (low evidence)
CACNB4
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia type 5, 613855
Tags
Red Red List (low evidence)
CASQ1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231
Tags
Red Red List (low evidence)
CCDC28B
3 reviews
2 red 		Other
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
Tags
Red Red List (low evidence)
CCT5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia
  • Sensory Neuropathy with Spastic Paraplegia
Tags
Red Red List (low evidence)
CHCHD10
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532
Tags
Red Red List (low evidence)
CHMP1A
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 8, 614961
Tags
Red Red List (low evidence)
CHRND
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital myopathy MONDO:0019952
Tags
Red Red List (low evidence)
CLPP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Perrault syndrome 3 MIM#614129
Tags
Red Red List (low evidence)
COL4A1
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
Phenotypes
  • Recurrent rhabdomyolysis
  • infections
  • hypertrophic cardiomyopathy.
Tags
Red Red List (low evidence)
COL4A2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
Phenotypes
  • Brain small vessel disease 2 614483
Tags
Red Red List (low evidence)
COQ5
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary 9, MIM#619028
  • Cerebellar ataxia
  • encephalopathy
  • generalized tonic-clonic seizures
  • intellectual disability
Tags
Red Red List (low evidence)
COQ7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Tags
Red Red List (low evidence)
CYP2U1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 56, autosomal recessive, 615030
Tags
Red Red List (low evidence)
DAB1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert list
Phenotypes
  • epilepsy
  • developmental delay
  • cerebellar ataxia
  • structural brain abnormalities
  • oral motor difficulty
Tags
Red Red List (low evidence)
DAO
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Amyotrophic Lateral Sclerosis
Tags
Red Red List (low evidence)
DNM2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Complicated hereditary spastic paraplegia
Tags
Red Red List (low evidence)
DYNC1H1
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600
Tags
Red Red List (low evidence)
ECE1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870
Tags
Red Red List (low evidence)
EEF2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spinocerebellar ataxia 26
Tags
Red Red List (low evidence)
ELOVL1
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527
Tags
Red Red List (low evidence)
ERLIN1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Red Red List (low evidence)
EWSR1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Red Red List (low evidence)
EXOSC3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, 614678
Tags
Red Red List (low evidence)
EXOSC3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital myopathy MONDO:0019952
Tags
Red Red List (low evidence)
EXOSC8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 1C, MIM# 616081
Tags
Red Red List (low evidence)
FKTN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
  • Fukuyama congenital muscular dystrophy
Tags
Red Red List (low evidence)
FOXG1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Rett syndrome
Tags
Red Red List (low evidence)
FOXP3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital myopathy MONDO:0019952
Tags
Red Red List (low evidence)
GAD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebralpalsy, spasticquadriplegic,1, 603513
Tags
Red Red List (low evidence)
GDNF
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • {Hirschsprung disease, susceptibility to, 3} MIM#613711
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)
GNE
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Red Red List (low evidence)
GRID2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Complicated spastic paraplegia
Tags
Red Red List (low evidence)
HARS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Perrault syndrome 2, MIM# 614926
Tags
Red Red List (low evidence)
HARS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Perrault syndrome 2, MIM#614926
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)
IDUA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital myopathy MONDO:0019952
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)
IFRD1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia
Tags
  • refuted
Red Red List (low evidence)
IFRD1
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Spinocerebellar ataxia 18 MIM#607458
Tags
Red Red List (low evidence)
IGHMBP2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuronopathy, distal hereditary motor, type VI 604320
Tags
Red Red List (low evidence)
IQGAP3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary neuropathy
Tags
Red Red List (low evidence)
KCNE3
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Periodic paralysis
Tags
Red Red List (low evidence)
KCNJ11
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820
Tags
Red Red List (low evidence)
KCNJ18
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert Review
Phenotypes
  • Hypokalemic periodic paralysis
  • {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239
Tags
Red Red List (low evidence)
KCNJ5
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Andersen-Tawil Syndrome
  • periodic muscle paralysis
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)
KLC4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • spastic paraplegia
  • progressive complicated spastic paraplegia
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)
LAMA5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Presynaptic congenital myasthenic syndrome
Tags
Red Red List (low evidence)
LAMB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Pierson syndrome, MIM# 609049
  • congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
Tags
Red Red List (low evidence)
LARS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Perrault syndrome 4 MIM#615300
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 list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • congenital lethal motor neuron disease
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)
MIR145
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • multisystemic smooth muscle dysfunction syndrome (MONDO:0013452)
Tags
Red Red List (low evidence)
MME
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spinocerebellar ataxia type 43, 617018
Tags
Red Red List (low evidence)
MMS19
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, MMS19-related
Tags
Red Red List (low evidence)
MTPAP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Spastic ataxia 4, autosomal recessive, 613672
  • Ataxia, spastic, 4
  • Spastic ataxia 4, autosomal recessive
Tags
Red Red List (low evidence)
MYBPC3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cardiomyopathy with myopathy
Tags
Red Red List (low evidence)
MYH1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • rhabdomyolysis, MONDO:0005290
Tags
Red Red List (low evidence)
MYH3
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • paresthesia
  • rhabdomyolysis
Tags
Red Red List (low evidence)
NEFH
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976
Tags
Red Red List (low evidence)
NOL3
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Myoclonus, familial cortical
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)
NRG3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
NRTN
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
OPA1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • gastrointestinal pseudo-obstruction
Tags
Red Red List (low evidence)
OPA1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert list
Phenotypes
  • congenital myopathy MONDO:0019952
Tags
Red Red List (low evidence)
PAX6
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Aniridia, 106210
  • Aniridia, Cerebellar Ataxia, And Mental Retardation
Tags
Red Red List (low evidence)
PCDH12
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
  • Victorian Clinical Genetics Services
Phenotypes
  • cerebellar ataxia, dystonia, retinopathy, and dysmorphism
Tags
Red Red List (low evidence)
PCYT2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • global developmental delay
  • regression
  • spastic parapesis or tetraparesis
  • epilepsy
  • progressive cerebral and cerebellar atrophy
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)
PGAP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Mental retardation, autosomal recessive 42
Tags
Red Red List (low evidence)
PHKB
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Tags
Red Red List (low evidence)
PIK3R5
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-oculomotor apraxia 3, OMIM #615217
Tags
Red Red List (low evidence)
PLEKHG5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Tags
Red Red List (low evidence)
POLG2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131
Tags
Red Red List (low evidence)
PRICKLE1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Progressive myoclonic epilepsy 1B, 612437
  • Progressive Myoclonus Epilepsy with Ataxia
Tags
Red Red List (low evidence)
RARS2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 6, 611523
  • early onset cerebellar ataxia
Tags
Red Red List (low evidence)
RPH3A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis
Tags
Red Red List (low evidence)
SAR1B
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Chylomicron retention disease, 246700
Tags
Red Red List (low evidence)
SARS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Progressive spastic paraplegia
Tags
Red Red List (low evidence)
SEMA3C
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
SEMA3D
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
SEPSECS
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2D, 613811
  • cerebellar ataxia and cognitive impairment
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)
SLC19A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Biotin-thiamine-responsive basal ganglia disease, MIM#607483
Tags
Red Red List (low evidence)
SLC33A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 42, autosomal dominant
  • Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD
Tags
Red Red List (low evidence)
SLC33A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spastic paraplegia 42, autosomal dominant, MIM# 612539
Tags
Red Red List (low evidence)
SLC52A1
3 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Riboflavin deficiency, MIM#615026
Tags
Red Red List (low evidence)
SNAP25
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330
Tags
Red Red List (low evidence)
SOX8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), SOX8-related
Tags
Red Red List (low evidence)
STXBP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spasticity
  • Early infantile epileptic encephalopathy 4
Tags
Red Red List (low evidence)
SYT14
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spinocerebellarataxia,autosomalrecessive11,614229
Tags
Red Red List (low evidence)
TCAP
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954)
Tags
Red Red List (low evidence)
TGM6
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 35, 613908
  • Spinocerebellar ataxia 35
Tags
  • refuted
Red Red List (low evidence)
TMEM70
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Tags
Red Red List (low evidence)
TPP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis neuronal 2, MIM#204500
Tags
Red Red List (low evidence)
TPR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393
Tags
Red Red List (low evidence)
TRAPPC2L
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331
Tags
  • founder
Red Red List (low evidence)
TRIM32
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110
  • ?Bardet-Biedl syndrome 11, 615988
Tags
Red Red List (low evidence)
TRIP4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
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
Red Red List (low evidence)
TRPV4
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, distal, congenital nonprogressive, 600175
Tags
Red Red List (low evidence)
TSEN2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2B, 612389
Tags
Red Red List (low evidence)
TSEN34
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Pontocerebellar hypoplasia type 2C, 612390
Tags
Red Red List (low evidence)
TSEN54
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Pontocerebellar hypoplasia type 5 610204
  • Pontocerebellar hypoplasia type 4 225753
  • Pontocerebellar hypoplasia type 2A 277470
Tags
Red Red List (low evidence)
TSEN54
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Expert list
Phenotypes
  • adult-onset cerebellar ataxia
Tags
Red Red List (low evidence)
TSPOAP1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dystonia 22, MIM# 620453
Tags
Red Red List (low evidence)
TTC8
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 8, 615985
Tags
Red Red List (low evidence)
TTN
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert Review
  • Expert list
Phenotypes
  • Congenital titinopathy
  • exercise intolerance
Tags
Red Red List (low evidence)
TTR
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related, MIM# 105210
Tags
Red Red List (low evidence)
TUBA1A
3 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 3, 611603
Tags
Red Red List (low evidence)
TUBB2A
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?progressive spastic ataxia syndrome resembling sacsinopathy
  • Complex cortical dysplasia with other brain malformations 5, 615763
Tags
Red Red List (low evidence)
TYMP
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Tags
Red Red List (low evidence)
UBA1
2 reviews
1 green 1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Tags
Red Red List (low evidence)
UNC13A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • microcephaly, cortical hyperexcitability, and fatal myasthenia
  • dyskinesia
  • autism
  • developmental delay
Tags
Red Red List (low evidence)
VWA3B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • ?Spinocerebellar ataxia, autosomal recessive 22
Tags
Red Red List (low evidence)
WDPCP
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
Red Red List (low evidence)
WDR48
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia
Tags
Red Red List (low evidence)
ZFR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Complicated hereditary spastic paraplegia
Tags
Red Red List (low evidence)
ZFYVE27
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 33, autosomal dominant, MIM#610244
Tags
Red Red List (low evidence)
ZNF423
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 14
Tags
Red Red List (low evidence)
ZNF592
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5
  • Galloway-Mowat Syndrome 1, 251300
Tags
No list No list
ATN1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dentatorubral-pallidoluysian atrophy MIM#125370
Tags
  • STR
No list No list
ATXN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 1 MIM#164400
Tags
  • STR
No list No list
ATXN10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 10 MIM#603516
Tags
  • STR
No list No list
ATXN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2 MIM#183090
Tags
  • STR
No list No list
ATXN3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Machado-Joseph disease MIM#109150
  • spindocerebellar ataxia 3
Tags
  • STR
No list No list
ATXN7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 7 MIM#164500
Tags
  • STR
No list No list
ATXN8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 8 MIM#608768
Tags
  • STR
No list No list
BEAN1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 31, 117210
  • autosomal dominant cerebellar ataxia type III
Tags
  • STR
No list No list
CAPRIN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Childhood Dementia
  • Myoclonus-Ataxia
  • Sensorimotor Neuropathy
  • cerebellar atrophy
  • cortical atrophy
Tags
No list No list
CAPRIN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Childhood Dementia
  • Myoclonus-Ataxia
  • Sensorimotor Neuropathy
  • cerebellar atrophy
  • cortical atrophy
Tags
No list No list
DAB1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Removed
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 37 MIM#615945
Tags
  • STR
No list No list
FMR1
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 Removed
  • Royal Melbourne Hospital
Phenotypes
  • FragileXtremor/ataxiasyndrome,300623
  • males with a tremor phenotype
  • Fragile X tremor/ataxia syndrome
  • FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
Tags
  • STR
No list No list
NOP56
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 36, 614153
Tags
  • STR
No list No list
PPP2R2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 12 MIM#604326
Tags
  • STR
No list No list
TBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
  • STR

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