PanelApp
  1. Panels
  2. Neurodegenerative disease - adult onset
Description
This is a superpanel containing genes that cause adult onset neurodegenerative disease.

857 Entities

857 reviewed, 616 green

List Entity Reviews Mode of inheritance Details
857 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)
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Anaemia, sideroblastic, with ataxia, MIM# 301310
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
  • Royal Melbourne Hospital
  • Expert list
  • Expert list
Phenotypes
  • Adrenoleukodystrophy MIM# 300100, XLR
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)
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)
ADAR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aicardi-Goutieres syndrome 6
  • neuroinflammatory disorder with cerebral calcification
  • progressive loss of cognition
  • spasticity
  • dystonia
  • parkinsonism
  • OMIM 615010
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)
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
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)
AGTPBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650
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)
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)
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)
ALS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • ALS2-related motor neuron disease, MONDO:0100227
Tags
Green Green List (high evidence)
ALS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • ALS2-related motor neuron disease, MONDO:0100227
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 Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Tags
Green Green List (high evidence)
ANXA11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • amyotrophic lateral sclerosis type 23 MONDO:0027694
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)
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
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, MIM# 613647
Tags
Green Green List (high evidence)
APP
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
  • Alzheimer disease MONDO:0007088
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)
AR_SBMA_CAG
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)
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
  • 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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Metachromatic leukodystrophy, MIM# 250100, adult-onset
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)
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)
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
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
Phenotypes
  • Hereditary sensory neuropathy type ID, MIM 613708
  • Spastic paraplegia 3A, MIM 182600
  • Hereditary spastic paraplegia, AR
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)
ATN1_DRPLA_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Dentatorubral-pallidoluysian atrophy MIM#125370
Tags
Green Green List (high evidence)
ATN1_DRPLA_CAG
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)
ATP13A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Kufor-Rakeb syndrome MIM#606693
Tags
Green Green List (high evidence)
ATP13A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • parkinsonism due to ATP13A2 deficiency MONDO:0017809
Tags
Green Green List (high evidence)
ATP13A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • 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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Kufor-Rakeb syndrome, MIM# 606693
Tags
Green Green List (high evidence)
ATP1A3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • ATP1A3-associated neurological disorder MONDO:0700002
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
Phenotypes
  • ATP1A3-associated neurological disorder, MONDO:0700002
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)
ATP2B3
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
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
  • GeneReviews
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
Tags
Green Green List (high evidence)
ATP5G3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Literature
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Tags
  • new gene name
Green Green List (high evidence)
ATP6AP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Parkinsonism with spasticity, X-linked, MIM# 300911
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)
ATP7B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Wilson disease MIM#277900
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)
ATXN10_SCA10_ATTCT
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Spinocerebellar ataxia 10 MIM#603516
Tags
Green Green List (high evidence)
ATXN1_SCA1_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Spinocerebellar ataxia 1 MIM#164400
Tags
Green Green List (high evidence)
ATXN1_SCA1_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar Ataxia type 1
  • Parkinsonism
  • OMIM 164400
Tags
Green Green List (high evidence)
ATXN2_SCA2_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia type 2 MONDO:0008458
Tags
Green Green List (high evidence)
ATXN2_SCA2_CAG
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)
ATXN2_SCA2_CAG
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)
ATXN3_SCA3_CAG
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
Green Green List (high evidence)
ATXN3_SCA3_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Machado-Joseph disease MIM#109150
  • Spinocerebellar ataxia type 3
Tags
Green Green List (high evidence)
ATXN7_SCA7_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Spinocerebellar ataxia 7 MIM#164500
Tags
Green Green List (high evidence)
ATXN8OS_SCA8_CTG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Spinocerebellar ataxia 8 MIM#608768
Tags
Green Green List (high evidence)
ATXN8OS_SCA8_CTG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 8 MIM#608768
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)
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
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Episodic ataxia during metabolic crises
  • paroxysmal nonkinesigenic dyskinesia
Tags
  • treatable
Green Green List (high evidence)
BEAN1_SCA31_TGGAA
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Spinocerebellar ataxia 31 MIM#117210
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, 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
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)
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 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • neurodegeneration with brain iron accumulation 4 MONDO:0013674
Tags
Green Green List (high evidence)
C19orf12
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
  • Neurodegeneration with brain iron accumulation 4, MIM# 614298
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)
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)
C9orf3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 31, MIM# 619565
  • Childhood/Adolescence onset generalised dystonia
  • Dystonia parkinsonism
  • Zech-Boesch Syndrome
Tags
  • new gene name
Green Green List (high evidence)
C9orf72_FTDALS_GGGGCC
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)
C9orf72_FTDALS_GGGGCC
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)
C9orf72_FTDALS_GGGGCC
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)
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_SCA6_CAG
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
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)
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)
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)
CAPN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 76 autosomal recessive, 616907
  • MONDO:0014827
Tags
Green Green List (high evidence)
CAPRIN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood Dementia
  • Myoclonus-Ataxia
  • Sensorimotor Neuropathy
  • cerebellar atrophy
  • cortical atrophy
Tags
Green Green List (high evidence)
CAPRIN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood Dementia
  • Myoclonus-Ataxia
  • Sensorimotor Neuropathy
  • cerebellar atrophy
  • cortical atrophy
Tags
Green Green List (high evidence)
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
Phenotypes
  • FG syndrome 4, 300422
  • Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749
Tags
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 9, MIM#612285
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)
CD99L2
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
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • CD99L2-related
Tags
Green Green List (high evidence)
CD99L2
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
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • CD99L2-related
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 5, MIM# 610188
Tags
Green Green List (high evidence)
CEP41
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 15, MIM# 614464
Tags
Green Green List (high evidence)
CHCHD10
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 2, MIM# 615911
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)
CHCHD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Parkinson disease 22, autosomal dominant MIM#616710
Tags
Green Green List (high evidence)
CHMP2B
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 7 (MIM#600795
  • MONDO:0010936)
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)
CLCN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with ataxia, MIM# 615651
Tags
Green Green List (high evidence)
CLN3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 MIM#204200
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
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Tags
Green Green List (high evidence)
CLN6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300
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)
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)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brain small vessel disease 1 with or without ocular anomalies MONDO:0008289
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814
Tags
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)
COQ5
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 9 MIM#619028
Tags
Green Green List (high evidence)
COQ7
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Tags
Green Green List (high evidence)
COQ8A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4 MIM#612016
Tags
  • treatable
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)
CP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Aceruloplasminaemia, MIM#604290
Tags
Green Green List (high evidence)
CP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Tags
Green Green List (high evidence)
CP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • 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)
CSF1R
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027
Tags
Green Green List (high evidence)
CSF1R
1 review
1 green 		Unknown
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CSF1R
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820
  • ataxia
Tags
Green Green List (high evidence)
CSNK2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732
Tags
Green Green List (high evidence)
CST3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebral amyloid angiopathy MIM#105150
  • Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214
Tags
  • founder
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)
CSTB_EPM1_CCCCGCCCCGCG
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Tags
  • 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)
CTSF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362
Tags
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
  • 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
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebrotendinous xanthomatosis, MIM# 213700
  • Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas
  • Epilepsy
  • Parkinsonism
  • Ataxia
  • Peripheral neuropathy
Tags
Green Green List (high evidence)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrotendinous xanthomatosis, MIM# 213700
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)
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)
DAB1_SCA37_ATTTC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 37 MIM#615945
Tags
  • STR
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)
DAGLB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinson disease, MONDO:0005180, DALGB-related
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)
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)
DCTN1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Perry syndrome, MONDO:0008201
Tags
Green Green List (high evidence)
DCTN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Perry syndrome, MONDO:0008201
Tags
Green Green List (high evidence)
DCTN1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Amber
  • Expert Review Green
Phenotypes
  • Perry syndrome, MONDO:0008201
Tags
Green Green List (high evidence)
DDHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary spastic paraplegia 28, MONDO:0012256
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
  • Expert list
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, MIM# 615033
  • MONDO:0014018
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)
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)
DNAJC12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
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
  • Literature
  • Literature
Phenotypes
  • juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
Tags
Green Green List (high evidence)
DNAJC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083
Tags
Green Green List (high evidence)
DNAJC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083
Tags
Green Green List (high evidence)
DNAJC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083
Tags
Green Green List (high evidence)
DNAJC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Parkinson disease 19a, juvenile-onset - MIM#615528
  • Parkinson disease 19b, early-onset - MIM#615528
Tags
Green Green List (high evidence)
DNMT1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584
Tags
Green Green List (high evidence)
DNMT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
  • Literature
Phenotypes
  • Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584
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)
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)
EEFSEC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Tags
Green Green List (high evidence)
EIF2AK2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877
  • Neurodevelopmental Syndrome
  • Developmental delays
  • Ataxia
  • Parkinsonism
  • White matter alterations
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)
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)
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)
ELFN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344
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
  • 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
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 38, MIM#615957
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)
EPM2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780
Tags
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)
ERBB4
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 19 MIM#615515
Tags
Green Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia
  • Xeroderma pigmentosum, group F, MIM# 278760
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 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hereditary spastic paraplegia 18 MONDO:0012639
Tags
Green Green List (high evidence)
ESRRG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Movement disorder, MONDO:0005395, ESRRG-related
Tags
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)
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
Phenotypes
  • Spastic paraplegia 35, autosomal recessive, MIM# 612319
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)
FAT2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GeneReviews
  • Royal Melbourne Hospital
  • Expert list
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • 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)
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
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Parkinson disease 15, autosomal recessive MIM#260300
Tags
Green Green List (high evidence)
FBXO7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • parkinsonian-pyramidal syndrome MONDO:0009830
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)
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_SCA27B_GAA
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • 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)
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)
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)
FMR1_FXTAS_CGG
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
  • Literature
Phenotypes
  • Fragile X tremor/ataxia syndrome MIM#300623
Tags
Green Green List (high evidence)
FMR1_FXTAS_CGG
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 list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Fragile X tremor/ataxia syndrome MIM#300623
Tags
  • STR
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)
FOXG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rett syndrome, congenital variant, MIM# 613454
  • Developmental and Epileptic Encephalopathy
  • Dystonia,
  • Athetosis
  • Parkinsonism
  • Stereotypies
Tags
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)
FRRS1L
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 37, MIM# 616981
  • Seizures
  • Chorea
  • Parkinsonism
  • Developmental delay
Tags
Green Green List (high evidence)
FTL
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FTL
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
  • Neurodegeneration with brain iron accumulation 3, MIM# 606159
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)
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
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Friedreich ataxia, 229300
Tags
  • STR
  • SV/CNV
Green Green List (high evidence)
FXN_FRDA_GAA
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
Green Green List (high evidence)
FXN_FRDA_GAA
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
  • STR
Green Green List (high evidence)
GALC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • 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)
GBA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinson's disease, MONDO:0005180, GBA-related
Tags
  • new gene name
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)
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)
GBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • 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)
GCH1
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
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
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)
GDAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
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, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
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
  • Expert list
Phenotypes
  • Alexander disease MONDO:0008752
Tags
Green Green List (high evidence)
GJA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary spastic paraplegia
  • Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
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)
GLA
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
  • Literature
Phenotypes
  • Fabry disease MONDO:0010526
Tags
Green Green List (high evidence)
GLB1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • GM1-gangliosidosis, type III , MIM#230650
  • Parkinsonism
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)
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)
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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923
Tags
Green Green List (high evidence)
GRN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485
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)
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)
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)
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
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)
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)
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)
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)
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)
HTRA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CARASIL syndrome MIM#600142
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779
Tags
Green Green List (high evidence)
HTT_HD_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease MIM#143100
Tags
  • STR
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)
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)
INPP4A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354
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)
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)
Angelman and Prader-Willi syndromes
ISCA-37404-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Angelman syndrome, MIM# 105830
  • Prader-Willi syndrome, MIM# 176270
Tags
  • SV/CNV
Green Green List (high evidence)
NPHP1 deletion
ISCA-37405-Loss
Region
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Nephronophthisis 1, juvenile, MIM# 256100
  • Joubert syndrome 4, MIM# 609583
  • Senior-Loken syndrome 1, MIM# 266900
Tags
  • SV/CNV
Green Green List (high evidence)
ITM2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebellar ataxia, cataract, deafness, and dementia or psychosis
  • Danish familial dementia
Tags
Green Green List (high evidence)
ITM2B
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
  • Cerebral amyloid angiopathy MONDO:0005620
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)
JPH3_HDL2_CTG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Huntington disease-like 2 MIM#606438
Tags
Green Green List (high evidence)
JPH3_HDL2_CTG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease-like 2 MIM#606438
Tags
  • STR
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
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)
KCNA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary spastic paraplegia and ataxia
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)
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)
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)
KIAA1161
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317
  • Primary familial brain calcification
  • Atypical parkinsonism
  • Supranuclear gaze palsy
Tags
  • new gene name
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 		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)
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)
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)
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)
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)
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
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)
KMT2B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 28, childhood-onset , MIM#617284
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)
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)
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)
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)
LMNB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, adult-onset, autosomal dominant MIM#169500
Tags
  • SV/CNV
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)
LRRK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
LRRK2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
LYST
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Chediak-Higashi syndrome 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)
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)
MAPT
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
  • Supranuclear palsy, progressive (MIM# 601104) AD
  • Supranuclear palsy, progressive atypical (MIM# 260540) AR
Tags
Green Green List (high evidence)
MAPT
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
  • late-onset Parkinson disease MONDO:0008199
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
  • 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
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)
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)
MECP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • MECP2-related disorders
  • Rett syndrome, MIM# 312750
  • Mental retardation, X-linked, syndromic 13, MIM# 300055
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)
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)
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)
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)
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)
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)
MT-ATP6
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-CO1
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-CO2
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-CYB
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-ND4
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-ND4-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TE
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TE-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TG
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TG-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TH
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TH-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TS2
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TS2-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TV
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TV-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TW
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TW-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TY
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TY-related
Tags
  • mtDNA
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)
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)
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)
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)
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)
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)
NHLRC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora Disease) MIM#254780
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 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
  • MONDO:0033043
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)
NOP56_SCA36_GGCCTG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 36 MIM#614153
Tags
  • STR
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)
NOTCH2NLC_NIID_GGC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronal intranuclear inclusion disease MIM#603472
  • Oculopharyngodistal myopathy 3 MIM#619473
  • Tremor, hereditary essential, 6 MIM#618866
Tags
Green Green List (high evidence)
NOTCH2NLC_NIID_GGC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronal intranuclear inclusion disease MIM#603472
  • Oculopharyngodistal myopathy 3 MIM#619473
  • Tremor, hereditary essential, 6 MIM#618866
Tags
Green Green List (high evidence)
NOTCH3
2 reviews
2 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
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310
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
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-Pick disease, type C1 (MIM#257220
  • MONDO:0009757)
Tags
Green Green List (high evidence)
NPC1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Niemann-Pick disease, MIM# 257220
  • Parkinsonism
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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-pick disease, type C2 MIM#607625
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)
NPC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Niemann Pick C2, OMIM 607625
  • Parkinsonism
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
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • cerebellar ataxia MONDO#0000437, NPTX1-related
Tags
Green Green List (high evidence)
NR4A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911
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)
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)
NUS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 55, with seizures, MIM# 617831
  • Parkinsonism
  • Developmental delay
  • Intellectual disability
  • Ataxia
  • Myoclonus
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)
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
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
  • OPA1-related optic atrophy with or without extraocular features, MONDO:0800181
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
  • 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)
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, 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 (MIM#613435)
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)
PANK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • pantothenate kinase-associated neurodegeneration MONDO:0009319
Tags
Green Green List (high evidence)
PANK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration with brain iron accumulation 1 (MIM#234200)
Tags
Green Green List (high evidence)
PARK7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PARK7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal recessive early-onset Parkinson disease 7 MONDO:0011658
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)
PDE1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related
Tags
Green Green List (high evidence)
PDE8B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Striatal degeneration, autosomal dominant, MIM#609161
Tags
Green Green List (high evidence)
PDGFB
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
  • Basal ganglia calcification, idiopathic, 5, MIM# 615483
Tags
Green Green List (high evidence)
PDGFRB
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
  • Basal ganglia calcification, idiopathic, 4, MIM# 615007
Tags
Green Green List (high evidence)
PDYN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 23
  • Spinocerebellar ataxia 23, 610245
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
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Refsum disease
  • Peroxisome biogenesis disorder 9B, MIM#614879
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)
PGBD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
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
  • Literature
Phenotypes
  • Phosphoglycerate kinase 1 deficiency, MIM# 300653
  • Haemolytic anaemia
  • Rhabdomyolysis
  • Myopathy
  • Juvenile Parkinsonism
  • OMIM 300653
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)
PINK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PINK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinson disease 6, early onset MIM#605909
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)
PLA2G6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinson disease 14, autosomal recessive, MIM# 612953
Tags
Green Green List (high evidence)
PLA2G6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal recessive Parkinson disease 14 MONDO:0013060
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)
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)
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)
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)
PNPT1
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 25, MIM# 608703
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
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
  • autosomal dominant progressive external ophthalmoplegia MONDO:0008003
Tags
Green Green List (high evidence)
POLR3A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • POLR3A-related disorder MONDO:0700276
Tags
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
  • POLR3A-related disorder MONDO:0700276
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Spastic ataxia
Tags
  • deep intronic
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)
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)
PPP2R2B_SCA12_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 12 MIM#604326
Tags
Green Green List (high evidence)
PPP2R2B_SCA12_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 12 MIM#604326
Tags
Green Green List (high evidence)
PPP2R5D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Early onset Parkinsonism
  • Houge-Janssens syndrome 1, MIM#616355
Tags
Green Green List (high evidence)
PRDX3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Cerebellar ataxia MONDO:0000437, PRDX3-related
Tags
Green Green List (high evidence)
PRKCG
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 14, MIM# 605361
  • Myoclonus
  • Parkinsonism
Tags
Green Green List (high evidence)
PRKN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal recessive juvenile Parkinson disease 2 MONDO:0010820
Tags
Green Green List (high evidence)
PRKN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinson disease, juvenile, type 2 MIM#600116
Tags
Green Green List (high evidence)
PRKRA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • dystonia 16 MONDO:0012789
Tags
Green Green List (high evidence)
PRNP
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
  • inherited Creutzfeldt-Jakob disease MONDO:0007403
  • Gerstmann-Straussler-Scheinker syndrome MONDO:0007656
Tags
Green Green List (high evidence)
PRNP
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
  • Prion Disease (MIM#176640)
  • Creutzfeldt-Jakob disease (MIM#123400)
Tags
Green Green List (high evidence)
PRNP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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_CJD_octapeptide
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440
Tags
Green Green List (high evidence)
PRNP_CJD_octapeptide
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440
Tags
Green Green List (high evidence)
PRNP_CJD_octapeptide
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440
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
  • PRRT2-associated paroxysmal movement disorder MONDO:0100556
Tags
Green Green List (high evidence)
PSAP
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491
Tags
Green Green List (high evidence)
PSEN1
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
  • Alzheimer disease, type 3 (MIM#607822
  • MONDO:0011913)
Tags
Green Green List (high evidence)
PSEN1
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
  • Alzheimer disease 3 MONDO:0011913
Tags
Green Green List (high evidence)
PSEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822
Tags
Green Green List (high evidence)
PSEN2
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
  • Alzheimer disease-4 (MIM#606889)
Tags
Green Green List (high evidence)
PSMF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
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)
PTRHD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747
Tags
Green Green List (high evidence)
PTS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PUM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 47, 617931
Tags
Green Green List (high evidence)
QDPR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, MIM#261630
  • Dehydropteridin reductase deficiency, Infantile-onset dystonia
  • Parkinsonism
  • Epilepsy
  • Autonomic dysfunction
  • Hyperphenylalaninemia
Tags
Green Green List (high evidence)
RAB1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, RAB1A-related
Tags
Green Green List (high evidence)
RAB32
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923
Tags
Green Green List (high evidence)
RAB39B
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709
Tags
Green Green List (high evidence)
RAB3A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 52, MIM# 621535
Tags
Green Green List (high evidence)
RAB3A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092
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)
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)
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)
RFC1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Tags
  • STR
Green Green List (high evidence)
RFC1_CANVAS_ANNGN
STR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Tags
  • STR
Green Green List (high evidence)
RFC1_CANVAS_ANNGN
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinson disease MONDO:0005180
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)
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
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
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 Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism MIM#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
  • non-coding gene
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)
RPS6KC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
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)
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)
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
  • Expert list
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550
Tags
Green Green List (high evidence)
SAMD9L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
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)
SCN1A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dravet syndrome, MIM# 607208
  • Epilepsy, Paekinsonism
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)
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)
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)
SEC31A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
Green Green List (high evidence)
SELENOI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 81, autosomal recessive 618768
Tags
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)
SERAC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
  • Parkinsonism
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 		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)
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
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)
SKOR2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Valence-Farazi cerebellar ataxia syndrome, MIM# 621386
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)
SLC18A2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinsonism-dystonia, infantile, 2 , MIM# 618049
  • Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism
Tags
Green Green List (high evidence)
SLC19A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
  • Childhood onset Dystonia and Parkinsonism
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)
SLC20A2
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
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600
Tags
Green Green List (high evidence)
SLC25A15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970
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
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)
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)
SLC30A10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208
Tags
Green Green List (high evidence)
SLC39A14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermanganesemia with dystonia 2 (MIM# 617013)
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)
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)
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)
SLC6A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinsonism-dystonia, infantile, 1, MIM# 613135
Tags
Green Green List (high evidence)
SLC9A1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Lichtenstein-Knorr Syndrome, MIM# 616291
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
  • Literature
Phenotypes
  • Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
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)
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
  • Literature
Phenotypes
  • Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Tags
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)
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)
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)
SNCA
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
  • Dementia, Lewy body (MIM#127750)
  • Parkinson disease 1 (MIM#168601)
  • Parkinson disease 4 (MIM#605543)
Tags
Green Green List (high evidence)
SNCA
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
  • Dementia, Lewy body (MIM#127750)
  • Parkinson disease 1 (MIM#168601)
  • Parkinson disease 4 (MIM#605543)
Tags
  • SV/CNV
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)
SOX6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tolchin-Le Caignec syndrome, MIM# 618971
  • Developmental delay
  • ID
  • ASD
  • ADHD
  • Parkinsonism
  • Syringomyelia
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)
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)
SPAST
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
SPAST
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, MIM# 182601
  • Cerebral Palsy MONDO:0006497, SPAST-related, AR
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)
SPG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • hereditary spastic paraplegia 11 MONDO:0011445
Tags
Green Green List (high evidence)
SPG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 11, autosomal recessive MIM#604360
  • Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668
  • Amyotrophic lateral sclerosis 5, juvenile MIM#602099
Tags
Green Green List (high evidence)
SPG21
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Mast syndrome, MIM# 248900
Tags
  • new gene name
Green Green List (high evidence)
SPG21
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
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
  • Literature
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, MIM# 607259
  • Ataxia
  • Progressive external opthalmoplegia
  • Parkinsonism
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
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)
SPR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
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)
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)
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)
STUB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar Ataxia 48, OMIM 618093
  • Parkinsonism
Tags
Green Green List (high evidence)
STUB1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 48 MIM#618093
  • cognitive impairment
  • Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
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)
STXBP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 4, MIM# 612164
  • Juvenile onset Parkinsonism
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
  • Joubert syndrome 32, MIM#617757
  • Neurodevelopmental disorder, MONDO:0700092, SUFU-related
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)
SYNJ1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinson disease 20, early-onset, MIM# 615530
Tags
Green Green List (high evidence)
TAF1_XDP_CCCTCT
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia-Parkinsonism, X-linked MIM#314250
Tags
  • founder
Green Green List (high evidence)
TAF1C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038
Tags
Green Green List (high evidence)
TARDBP
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 10, with or without FTD (MIM#612069)
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)
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)
TBC1D24
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 16, MIM# 615338
  • Intellectual disability
  • Parkinsonism
  • Seizures
  • Psychosis
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)
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
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439
Tags
Green Green List (high evidence)
TBP_SCA17_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
Green Green List (high evidence)
TBP_SCA17_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
Green Green List (high evidence)
TBP_SCA17_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
  • STR
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)
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)
TH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Tyrosine hydroxylase deficiency MONDO:0100064
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)
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)
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)
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)
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)
TPP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2, MIM# 204500
  • Parkinsonism
Tags
Green Green List (high evidence)
TREM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193
  • {Alzhieimer disease 17, susceptibility to}, MIM# 615080
Tags
Green Green List (high evidence)
TREX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0008641
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)
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related, MIM# 105210
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
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic ataxia 11, autosomal dominant, MIM# 621226
Tags
Green Green List (high evidence)
TUBA4A
2 reviews
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 22 with or without frontotemporal dementia, MIM# 616208
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)
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)
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)
TWNK
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
  • 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)
TYROBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770)
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)
UBQLN2
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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)
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
  • Literature
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672
  • Parkinsonism
  • Dystonia
  • Chorea
  • Brain atrophy
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
  • 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 		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)
UNC13A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456
Tags
Green Green List (high evidence)
VAC14
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Striatonigral degeneration, childhood-onset, MIM# 617054
  • Dystonia
  • Parkinsonism
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
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954)
Tags
Green Green List (high evidence)
VCP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507
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)
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)
VPS13A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • chorea-acanthocytosis MONDO:0008695
Tags
Green Green List (high evidence)
VPS13A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Choreoacanthocytosis MIM#200150
Tags
Green Green List (high evidence)
VPS13C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Parkinson disease 23, autosomal recessive, early onset MIM#616840
Tags
Green Green List (high evidence)
VPS13C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal recessive early-onset Parkinson disease 23 MONDO:0014796
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)
VPS35
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • {Parkinson disease 17} MIM#614203
  • Cognitive decline
Tags
Green Green List (high evidence)
VPS35
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
  • Parkinson disease 17, MIM# 614203
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)
VWA3B
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 22 MIM#616948
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)
WARS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinsonism-dystonia 3, childhood-onset, MIM# 619738
Tags
Green Green List (high evidence)
WASHC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 8, autosomal dominant, 603563
  • MONDO:0011339
Tags
Green Green List (high evidence)
WDR45
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
  • X-linked complex neurodevelopmental disorder MONDO:0100148
Tags
Green Green List (high evidence)
WDR45
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
  • Neurodegeneration with brain iron accumulation 5 MIM#300894
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)
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
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease (MIM#300842)
Tags
Green Green List (high evidence)
XPR1
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
  • Basal ganglia calcification, idiopathic, 6, MIM# 616413
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)
ZFHX3_SCA4_GGC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • spinocerebellar ataxia type 4 MONDO:0010847
Tags
Green Green List (high evidence)
ZFYVE26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
  • Literature
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, MIM# 270700
  • Spastic paraplegia and retinal degeneration
  • Kjellin syndrome
  • Parkinsonism
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)
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)
AFG3L2
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 28, MIM# 610246
  • optic atrophy
  • spastic ataxia
  • L-dopa-responsive parkinsonism
Tags
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)
APOE
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Alzheimer disease 2, MIM# 104310
Tags
Amber Amber List (moderate evidence)
APP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Alzheimer disease 1, familial, MIM# 104300
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)
ATP2B4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Pure and complicated hereditary spastic paraplegia
Tags
Amber Amber List (moderate evidence)
BICD2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • 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)
C17orf80
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970
Tags
  • new gene name
Amber Amber List (moderate evidence)
CAPN1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 76, autosomal recessive, 616907
  • MONDO:0014827
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)
CCDC88C
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • GeneReviews
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant spinocerebellar ataxia
  • ?Spinocerebellar ataxia 40, 616053
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)
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)
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)
COASY
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration with brain iron accumulation 6, MIM# 615643
Tags
Amber Amber List (moderate evidence)
COL4A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Familial porencephaly MONDO:0020496
Tags
Amber Amber List (moderate evidence)
CPT1C
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 73, autosomal dominant, MIM#616282
  • MONDO:0014568
Tags
  • disputed
Amber Amber List (moderate evidence)
CYLD
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
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)
DDC
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
  • Infantile-onset parkinsonism & dystonia
  • Bulbar dysfunction
  • Oculogyric crisis
  • Autonomic dysfunction
  • Intellectual disability
Tags
Amber Amber List (moderate evidence)
DHDDS
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay and seizures with or without movement abnormalities, MIM# 617836
  • Myoclonic Epilepsy
  • Parkinsonism
  • Ataxia
  • Intellectual disability
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)
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)
EPM2A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780
  • Progressive Myoclonic Epilepsy
  • Parkinsonism
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)
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)
GBA
2 reviews
 Other
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • {Lewy body dementia, susceptibility to} (MIM# 127750)
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)
HARS
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • multisystem ataxic syndrome
Tags
Amber Amber List (moderate evidence)
HNRNPA1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424
  • Amyotrophic lateral sclerosis 20 MIM#615426
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)
HNRNPA2B1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
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)
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)
KIF5A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670
Tags
Amber Amber List (moderate evidence)
KIF5A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 10, autosomal dominant MIM#604187
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)
LYST
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • spastic paraplegia
  • Spastic paraplegia
  • Chediak-Higashi syndrome, 214500
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)
MATR3
1 review
 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 21 MIM#606070
  • frontotemporal dementia
  • multisystem proteinopathy
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)
MT-TC
1 review
 MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TC-related
Tags
  • mtDNA
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)
NHLRC1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780
  • Lafora disease
  • Progressive Myoclonic Epilepsy
  • Parkinsonism
Tags
Amber Amber List (moderate evidence)
PCDHA9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976
Tags
Amber Amber List (moderate evidence)
PCNA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • hereditary ataxia MONDO:0100309
Tags
Amber Amber List (moderate evidence)
PLD3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GeneReviews
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • ?Spinocerebellar ataxia 46
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)
PNPLA6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149
Tags
Amber Amber List (moderate evidence)
POLG
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 4a MONDO:0008758
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
3 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
2 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy
Tags
Amber Amber List (moderate evidence)
PTPA
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability, MONDO: 36073231, PTPA-related
  • Parkinson disease MONDO:0005180, PTPA-related
Tags
Amber Amber List (moderate evidence)
RBMX
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Tags
Amber Amber List (moderate evidence)
RBMX
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
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 list
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
Tags
Amber Amber List (moderate evidence)
SIDT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lysosomal storage disease, MONDO:0002561, SIDT2-related
Tags
Amber Amber List (moderate evidence)
SORL1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Alzheimer disease, MONDO:0004975, SORL1-related
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
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)
SQSTM1
3 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
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437)
Tags
Amber Amber List (moderate evidence)
SREBF2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related
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)
SVBP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic paraplegia 94, autosomal recessive, MIM# 621150
Tags
  • founder
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)
TAF15
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
  • Frontotemporal dementia
Tags
Amber Amber List (moderate evidence)
TBCB
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382
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)
TENM4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • tremor, hereditary essential, 5 MONDO:0014756
Tags
Amber Amber List (moderate evidence)
THAP11_SCA51_CAG
STR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinocerebellar ataxia 51 MONDO:0975800
Tags
Amber Amber List (moderate evidence)
THG1L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Tags
  • founder
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)
TIA1
1 review
 Other
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Multisystem proteinopathy
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)
TRPC3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GeneReviews
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
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)
UQCRC1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Parkinsonism with polyneuropathy, MIM# 619279
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
  • Expert list
Phenotypes
  • Spastic ataxia 1, autosomal dominant, MIM# 108600
Tags
  • founder
Amber Amber List (moderate evidence)
VAMP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Expert Review Amber
Phenotypes
  • Autosomal dominant spastic ataxia 1, 108600
  • Spastic ataxia 1, autosomal dominant, 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
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)
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)
ZFYVE26
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
  • 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)
ALPL
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypophosphatasia, adult, MIM# 146300
  • Osteomalacia
  • Parkinsonism
Tags
Red Red List (low evidence)
ALS2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
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)
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)
ANG
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
ANG
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Parkinson disease MONDO:0005180
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
  • Royal Melbourne Hospital
  • Expert Review Red
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Alternating hemiplegia of childhood 1, 104290
  • Familial hemiplegic migraine 2, 602481
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
  • Royal Melbourne Hospital
  • Expert Review Red
Phenotypes
  • Wilson disease 277900
  • Wilson disease, 277900
Tags
Red Red List (low evidence)
ATP7B
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
ATXN10
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spinocerebellar Ataxia 10
  • Parkinsonism
  • OMIM 603516
Tags
  • STR
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)
CACNB4
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert list
  • Expert Review Red
  • Expert Review Red
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia type 5, 613855
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
  • Literature
  • Expert Review Red
  • 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)
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)
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
  • Expert list
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, DAB1-related
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
  • refuted
Red Red List (low evidence)
DCAF17
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
DNAJC13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
DNM2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Red
  • 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)
EEF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • GeneReviews
  • Royal Melbourne Hospital
  • Expert Review Red
  • Expert Review Red
  • 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
  • disputed
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)
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)
FA2H
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 35, autosomal recessive, MIM# 612319
Tags
Red Red List (low evidence)
FIG4
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
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)
FUS
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • tremor, hereditary essential, 4 MONDO:0013888
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)
GCH1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
GIGYF2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • {Parkinson disease 11} , OMIM # 607688
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)
GSN
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Amyloidosis, Finnish type MIM#105120
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)
HEXA
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • GM2 Gangliosidosis
  • Tay-Sachs disease
  • Parkinsonism
  • OMIM 272800
Tags
Red Red List (low evidence)
HTRA2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
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
  • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Tags
  • refuted
Red Red List (low evidence)
IFRD1
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Red
  • Expert Review
  • Expert Review Red
  • Expert Review Red
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
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)
KCNJ15
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Parkinson disease, MONDO:0005180, KCNJ15-related
Tags
Red Red List (low evidence)
KLC4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129
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)
LMNB1 upstream region
LMNB1 upstream region
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Literature
Phenotypes
  • Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215
Tags
  • regulatory region
Red Red List (low evidence)
MME
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • GeneReviews
  • Royal Melbourne Hospital
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
  • Expert Review Red
Phenotypes
  • ?Spinocerebellar ataxia type 43, 617018
Tags
Red Red List (low evidence)
MT-ND6
2 reviews
1 green 1 red 		MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Leber Optic Atrophy
  • Parkinsonism
  • OMIM 516006
Tags
  • mtDNA
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)
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
  • Royal Melbourne Hospital
  • Expert Review Red
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Myoclonus, familial cortical
Tags
Red Red List (low evidence)
NR4A2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
OPA3
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
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)
PCP4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related
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)
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)
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
  • disputed
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)
PODXL
1 review
 Unknown
Sources
  • Literature
Phenotypes
  • juvenile-onset Parkinson disease
Tags
Red Red List (low evidence)
PPIA
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated
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
  • disputed
Red Red List (low evidence)
PRKCH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Alzheimer disease, MONDO:0004975, PRKCH-related
Tags
Red Red List (low evidence)
PSEN2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Parkinsonism
  • Alzheimer disease-4 MIM#606889
Tags
Red Red List (low evidence)
RAPGEF2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • amyotrophic lateral sclerosis MONDO:0004976
Tags
  • STR
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)
RIC3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Parkinson disease
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)
SEPSECS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • Expert Review Red
  • Expert Review Red
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia type 2D, 613811
  • cerebellar ataxia and cognitive impairment
Tags
Red Red List (low evidence)
SETX
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
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)
SLC27A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related
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)
SNCB
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Dementia, Lewy body, MIM#127750
Tags
  • disputed
Red Red List (low evidence)
SOD1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
SPART
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
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
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • GeneReviews
  • Royal Melbourne Hospital
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spinocerebellarataxia,autosomalrecessive11,614229
Tags
Red Red List (low evidence)
TET2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dementia
Tags
Red Red List (low evidence)
TGM6
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert Review Red
  • Expert Review Red
  • 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)
TH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Segawa syndrome, recessive MIM#605407
Tags
Red Red List (low evidence)
TMEM230
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Parkinson disease 21, MIM#616361
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)
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)
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
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Expert list
  • Expert list
  • Expert Review Red
  • Expert list
Phenotypes
  • adult-onset cerebellar ataxia
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)
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)
TUBB4A
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
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)
UCHL1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
VAPB
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 8 MIM#608627
  • Spinal muscular atrophy, late-onset, Finkel type MIM#182980
Tags
Red Red List (low evidence)
WASL
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Parkinson's disease, MONDO:0005180, WASL-related
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
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 33, autosomal dominant, MIM#610244
Tags
  • disputed
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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Dentatorubral-pallidoluysian atrophy MIM#125370
Tags
  • STR
No list No list
ATXN2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Spinocerebellar Ataxia 2
  • Parkinsonism
  • Myoclonus
  • OMIM 183090
Tags
  • STR
No list No list
ATXN3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Spinocerebellar 3
  • Machado Joseph disease
  • Ataxia
  • Parkinsonism
  • OMIM 109150
Tags
  • STR
No list No list
ATXN8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Spinocerebellar 8
  • Parkinsonism
  • OMIM 608768
Tags
  • STR
No list No list
C9orf72
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Tags
  • STR
No list No list
C9orf72
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Tags
  • STR
No list No list
FMR1
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 Removed
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Fragile X tremor/ataxia syndrome MIM#300623
Tags
  • STR
No list No list
HTT
1 review
1 green 		Unknown
Sources
  • Expert Review Removed
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
  • STR
No list No list
JPH3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Huntington Disease Like 2 (HDL2)
  • Parkinsonism
  • Severe Dementia
  • OMIM 606438
Tags
  • STR
No list No list
PPP2R2B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Spinocerebellar ataxia 12
  • Parkinsonism
  • OMIM 604326
Tags
  • STR
No list No list
TAF1
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Removed
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia-Parkinsonism, X-linked, MIM# 314250
Tags
  • deep intronic
  • founder
  • STR
No list No list
TBP
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Spinocerebellar Ataxia 17
  • Parkinsonism
  • Chorea
  • Seizures
  • Psychosis
  • Dementia
  • OMIM 607136
Tags
  • STR

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