PanelApp (test)
  1. Panels
  2. Tremors_Superpanel
Description
Superpanel containing gene panels where tremors are a prominent feature of the condition.

374 Entities

325 reviewed, 290 green

List Entity Reviews Mode of inheritance Details
374 Entitiess
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)
ACTB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Baraitser-Winter syndrome 1, 243310
  • Dystonia, juvenile-onset, 607371
Tags
Green Green List (high evidence)
ADAR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • dystonia
  • Aicardi-Goutieres syndrome 6, 615010
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)
ADCY5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskinesia, familial, with facial myokymia, MIM# 606703
  • MONDO:0011707
  • Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647
  • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Tags
Green Green List (high evidence)
ADCY5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dyskinesia, familial, with facial myokymia, MIM# 606703
  • MONDO:0011707
  • Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647
  • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Tags
Green Green List (high evidence)
ANO3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
Tags
Green Green List (high evidence)
APTX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia-oculomotor apraxia type 1
  • Dystonia
Tags
Green Green List (high evidence)
ARFGEF3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, MONDO:0044807, ARFGEF3-related
Tags
Green Green List (high evidence)
ARSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Metachromatic leukodystrophy, MIM#250100
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ARX
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
  • Partington syndrome, MIM# 309510
  • Dystonia
Tags
Green Green List (high evidence)
ATAD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperekplexia 4, MIM#618011
Tags
Green Green List (high evidence)
ATM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia telangiectasia
  • Dystonia
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Parkinson disease
  • Kufor-Rakeb syndrome 606693
  • Dystonia
Tags
Green Green List (high evidence)
ATP1A2
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia-12, MIM# 128235
  • Rapid dystonia-parkinsonism MONDO:0007496
Tags
Green Green List (high evidence)
ATP1A3
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
ATP5G3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681
Tags
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)
ATP7B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Wilson disease, MIM# 277900
  • Dystonia
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)
ATXN1_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)
AUH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 3-Methylglutaconic aciduria type 1
  • Dystonia
Tags
Green Green List (high evidence)
BCAP31
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
Tags
Green Green List (high evidence)
C19orf12
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • mitochondrial membrane protein-associated neurodegeneration
  • neurodegeneration with brain iron accumulation-4
  • Dystonia
Tags
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)
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)
C9orf3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 31, MIM# 619565
Tags
  • new gene name
Green Green List (high evidence)
CACNA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Episodic ataxia, type 2 MIM#108500
  • Spinocerebellar ataxia 6 MIM#183086
Tags
Green Green List (high evidence)
CACNA1A
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CACNA1G
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087
Tags
Green Green List (high evidence)
CACNA1S
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypokalemic periodic paralysis, type 1, MIM# 170400
Tags
Green Green List (high evidence)
CAMK4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual disability
  • Autism
  • Behavioral abnormality
  • Abnormality of movement
  • Dystonia
  • Ataxia
  • Chorea
  • Myoclonus
Tags
Green Green List (high evidence)
CASR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypocalciuric hypercalcemia, type I, MIM# 145980
  • Hypocalciuric Hypercalcemic
  • Hyperparathyroidism
  • paroxysmal dyskinesia
  • brain calcification
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)
CLCN1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myotonia congenita, dominant, MIM# 160800
  • Myotonia congenita, recessive, MIM# 255700
Tags
Green Green List (high evidence)
CLDN5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related
  • familial migraine
  • alternating hemiplegia
  • hemiplegic migraine
  • brain calcification
  • acquired microcephaly
  • epilepsy
Tags
Green Green List (high evidence)
CLN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 204200
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)
COASY
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • COASY protein-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 6 615643
Tags
Green Green List (high evidence)
COQ8A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, MIM# 612016
Tags
  • treatable
Green Green List (high evidence)
CP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Aceruloplasminaemia, MIM#604290
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)
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)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebrotendinous xanthomatosis, MIM# 213700
  • Cholestanol storage disease
  • Dystonia
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)
DCAF17
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Woodhouse-Sakati syndrome
  • Dystonia
Tags
Green Green List (high evidence)
DCTN1
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
  • Perry syndrome MONDO:0008201
Tags
Green Green List (high evidence)
DDC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, 608643
  • Dystonia
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
DLAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency 245348
  • Dystonia
Tags
Green Green List (high evidence)
DLAT
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency, MIM# 245348
  • Episodic dystonia (Exercise induced or without clear trigger)
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)
DNAJC12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Tags
Green Green List (high evidence)
DNAJC5
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
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350
Tags
Green Green List (high evidence)
DNAJC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • juvenile onset Parkinson disease 19A MONDO:0014231
Tags
Green Green List (high evidence)
ECHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Tags
Green Green List (high evidence)
ECHS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
  • paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)
Tags
Green Green List (high evidence)
ECHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277
  • Dystonia
Tags
Green Green List (high evidence)
EIF2AK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual disability
  • white matter abnormalities
  • ataxia
  • regression with febrile illness
  • early onset dystonia
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)
EIF2AK2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystonia 33, MIM# 619687
Tags
Green Green List (high evidence)
EIF4A2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455
Tags
Green Green List (high evidence)
FA2H
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia
  • Spastic paraplegia 35, autosomal recessive 612319
  • fatty acid hydroxylase-associated neurodegeneration
Tags
Green Green List (high evidence)
FBXO28
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 100, MIM# 619777
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)
FBXO7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • juvenile parkinsonism
  • Dystonia
Tags
Green Green List (high evidence)
FITM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Siddiqi syndrome MIM#618635
  • dystonia
  • deafness
Tags
Green Green List (high evidence)
FOXG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Rett syndrome, congenital variant
  • Dystonia
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)
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)
FTDALS
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Tags
Green Green List (high evidence)
FTDALS
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Tags
Green Green List (high evidence)
FTL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration with brain iron accumulation 3 606159
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)
FUCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fucosidosis, MIM#230000
Tags
Green Green List (high evidence)
FXTAS
STR
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fragile X tremor/ataxia syndrome MIM#300623
Tags
Green Green List (high evidence)
GABRB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 43 MIM#617113
Tags
Green Green List (high evidence)
GABRB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 43 MIM#617113
Tags
Green Green List (high evidence)
GALT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Galactosemia, MIM#230400
Tags
  • treatable
Green Green List (high evidence)
GAMT
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebral creatine deficiency syndrome 2 MIM#612736
Tags
  • treatable
Green Green List (high evidence)
GBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gaucher disease, type III, MIM# 231000
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
Green Green List (high evidence)
GCDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric aciduria, type 1
  • Dystonia
Tags
  • treatable
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
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Tags
Green Green List (high evidence)
GCH1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dopa-responsive dystonia
  • exercise-induced dystonia
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
Tags
Green Green List (high evidence)
GJC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, MIM# 608804
Tags
Green Green List (high evidence)
GLB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Infantile GM1 gangliosidosis
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)
GLRA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 1, MIM# 149400
Tags
Green Green List (high evidence)
GLRB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 2, MIM# 614619
Tags
Green Green List (high evidence)
GM2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • GM2-gangliosidosis, AB variant, MIM#272750
Tags
Green Green List (high evidence)
GNAL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 25, MIM# 615073
  • MONDO:0014033
Tags
Green Green List (high evidence)
GNAO1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodevelopmental disorder with involuntary movements, 617493
Tags
Green Green List (high evidence)
GNAO1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 17
  • Neurodevelopmental disorder with involuntary movements
Tags
Green Green List (high evidence)
GNB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mental retardation, autosomal dominant 42, MIM# 616973
  • Myoclonus dystonia
Tags
Green Green List (high evidence)
GRIN1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
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, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485
Tags
Green Green List (high evidence)
GTPBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Jaberi-Elahi syndrome, MIM#617988
Tags
Green Green List (high evidence)
HD
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)
HIBCH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Tags
Green Green List (high evidence)
HIBCH
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
  • Paroxysmal dyskinesia (exercise induced or without clear trigger
  • isolated or with additional features
  • mitochondrial disorder (Leigh syndrome)
  • neurodevelopmental disability
  • epilepsy.
Tags
Green Green List (high evidence)
HPCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 2, torsion, autosomal recessive, 224500
  • MONDO:0009141
  • childhood-onset generalized dystonia
  • adolescence-onset segmental dystonia
  • generalized dystonia with additional neurological features
Tags
Green Green List (high evidence)
HPRT1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Lesch-Nyhan syndrome
  • Dystonia
Tags
Green Green List (high evidence)
HTRA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
IMPDH2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dystonia
Tags
Green Green List (high evidence)
IRF2BPL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
Tags
Green Green List (high evidence)
KCNA1
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KCNA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia
  • Epileptic encephalopathy, early infantile, 32, MIM# 616366
Tags
Green Green List (high evidence)
KCNJ2
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KCNMA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446
Tags
Green Green List (high evidence)
KCNMA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Tags
Green Green List (high evidence)
KCNN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 34, myoclonic, MIM#619724
  • Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Tags
Green Green List (high evidence)
KCNQ2
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KCNQ3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Seizures, benign neonatal, 2, MIM# 121201
Tags
Green Green List (high evidence)
KCTD17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 26, myoclonic MIM#616398
Tags
Green Green List (high evidence)
KIAA1161
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317
  • paroxysmal dyskinesia
  • brain calcification
  • episodic hemiparesis
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)
KIF1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia
  • spastic paraplegia
  • intellectual disability
Tags
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)
KMT2B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • early-onset dystonia
  • Dystonia 28, childhood-onset 617284
  • MONDO:0015004
Tags
Green Green List (high evidence)
L2HGDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • L-2-hydroxyglutaric aciduria MIM#236792
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)
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic ataxia 3, autosomal recessive MIM#611390
Tags
  • SV/CNV
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)
MECR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
  • MONDO:0015003
Tags
Green Green List (high evidence)
MECR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
  • MONDO:0015003
Tags
Green Green List (high evidence)
MED27
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • cerebellar hypoplasia
  • dystonia
Tags
Green Green List (high evidence)
NIID
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronal intranuclear inclusion disease MIM#603472
  • Oculopharyngodistal myopathy 3 MIM#619473
  • Tremor, hereditary essential, 6 MIM#618866
Tags
Green Green List (high evidence)
NIT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebrovascular disorder, NIT1-related (MONDO:0011057)
Tags
Green Green List (high evidence)
NKX2-1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chorea, hereditary benign MIM#118700
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Tags
Green Green List (high evidence)
NKX6-2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
Green Green List (high evidence)
NPC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Niemann-Pick disease type C1
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)
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)
NPC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Niemann-Pick disease type C2
  • Dystonia
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)
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)
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)
OPA3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-methylglutaconic aciduria, type III, MIM# 258501
  • developmental delay, hypotonia
  • dystonia and chorea
  • ataxia, optic atrophy
  • spastic paraplegia
Tags
Green Green List (high evidence)
PANK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • pantothenate kinase-associated neurodegeneration
  • Dystonia
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)
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)
PARK7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset MIM#606324
Tags
Green Green List (high evidence)
PCCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Propionicacidemia, MIM# 606054
Tags
  • treatable
Green Green List (high evidence)
PCCB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Propionicacidemia, MIM# 606054
Tags
  • treatable
Green Green List (high evidence)
PDE10A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Early onset chorea without epilepsy
  • infantile onset limb and orofacial dyskinesia (OMIM 616921)
Tags
Green Green List (high evidence)
PDE2A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Paroxysmal dyskinesia
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Basal ganglia calcification, idiopathic, 5, MIM# 615483
  • Paroxysmal nonkinesigenic dyskinesia
  • paroxysmal kinesigenic dyskinesia
  • Brain calcification
Tags
Green Green List (high evidence)
PDGFB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Basal ganglia calcification, idiopathic, 5 615483
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)
PDHA1
2 reviews
1 green 		Other
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
  • Paroxysmal dyskinesia (exercise induced or without clear trigger
Tags
Green Green List (high evidence)
PDHA1
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
  • Pyruvate dehydrogenase E1-alpha deficiency MIM#312170
Tags
Green Green List (high evidence)
PDHX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lacticacidemia due to PDX1 deficiency MIM#245349
Tags
Green Green List (high evidence)
PDHX
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lactic acidemia due to PDX1 deficiency, MIM# 245349
  • episodic dystonia
  • Paroxysmal dyskinesia (exercise induced or without clear trigger
  • isolated or with additional features)
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)
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)
PINK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Parkinson disease 6, early onset
  • Dystonia
Tags
Green Green List (high evidence)
PLA2G6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Parkinson disease 14, autosomal recessive 612953
  • PLA2G6-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 2B 610217
  • Infantile neuroaxonal dystrophy 1 256600
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)
PNKD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
  • MONDO:0007326
Tags
Green Green List (high evidence)
PNKD
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
Tags
Green Green List (high evidence)
PNKP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ataxia-oculomotor apraxia 4, MIM# 616267
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
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694
  • POLR3A Leukoencephalopathy
  • Parkinsonism
  • Ocular and dental abnormality
  • Hypogonadism
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694
  • Striatal abnormalities
  • Dystonia
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
  • Mental retardation, autosomal dominant 35, MIM# 616355
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • juvenile parkinsonism/dystonia
  • Parkinson disease, juvenile, type 2
  • Dystonia
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)
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)
PRKRA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 16, MIM# 612067
  • MONDO:0012789
Tags
  • founder
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)
PRRT2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis 602066
  • Episodic kinesigenic dyskinesia 1 128200
  • Seizures, benign familial infantile, 2 605751
Tags
Green Green List (high evidence)
PRRT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Episodic kinesigenic dyskinesia 1, MIM# 128200
  • MONDO:0007494
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, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Frontotemporal dementia, MIM# 600274
  • Dystonia
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)
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)
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
  • 6-Pyruvoyltetrahydropterin Synthase Deficiency
  • Dystonia
Tags
  • treatable
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)
QDPR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, 261630
  • Dihydropteridine reductase deficiency
  • Dystonia
Tags
  • treatable
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)
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)
RHOBTB2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Epileptic encephalopathy, early infantile, 64, MIM# 618004
  • Dystonia, hypertonia, movement disorder
  • truncal hypotonia
  • hemiparesis
  • developmental and epileptic encephalopathy
Tags
Green Green List (high evidence)
RHOBTB2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Epileptic encephalopathy, early infantile, 64, MIM# 618004
  • Paroxysmal movement disorder
Tags
Green Green List (high evidence)
RNASEH2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 2 MIM#610181
Tags
Green Green List (high evidence)
RNASEH2C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 3 MIM#610329
Tags
Green Green List (high evidence)
RNU7-1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aicardi-Goutieres syndrome 9, MIM# 619487
Tags
Green Green List (high evidence)
SCN1A
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
SCN2A
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SCN4A
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SCN8A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
SERAC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • Lesions in the basal ganglia
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)
SGCE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia-11, myoclonic, MIM# 159900
  • MONDO:0008044
Tags
Green Green List (high evidence)
SHQ1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 35, childhood-onset , MIM# 619921
Tags
Green Green List (high evidence)
SHQ1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 35, childhood-onset , MIM# 619921
  • Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
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
  • Expert Review
Phenotypes
  • Allan-Herndon-Dudley syndrome, MIM# 300523
Tags
Green Green List (high evidence)
SLC16A2
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Allan-Herndon-Dudley syndrome, MIM# 300523
  • paroxysmal dyskinesia (passive movement trigger)
  • neurodevelopmental disability, hypotonia
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)
SLC18A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049
Tags
Green Green List (high evidence)
SLC19A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483
  • Dystonia
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, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6, MIM# 612656
Tags
Green Green List (high evidence)
SLC20A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Basal ganglia calcification, idiopathic, 1 213600
  • Dystonia
Tags
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)
SLC2A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • GLUT1 deficiency syndrome MONDO:0000188
Tags
Green Green List (high evidence)
SLC2A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 9, MIM# 601042
  • MONDO:0010983
Tags
Green Green List (high evidence)
SLC30A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
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)
SLC30A9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Birk-Landau-Perez syndrome (MIM#617595)
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)
SLC39A14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypermanganesemia with dystonia 2 617013
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)
SLC6A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dopamine transporter deficiency
  • Parkinsonism-dystonia, infantile, 613135
Tags
Green Green List (high evidence)
SLC6A5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 3, MIM# 614618
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)
SNORD118
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts MIM#614561
Tags
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)
SPATA5L1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
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)
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)
SPR
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
  • MONDO:0012994
Tags
Green Green List (high evidence)
SQSTM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
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)
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)
SUCLA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
  • Dystonia
Tags
Green Green List (high evidence)
SUOX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sulfite oxidase deficiency MIM#272300
Tags
Green Green List (high evidence)
SURF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leigh syndrome, due to COX IV deficiency, MIM# 256000
Tags
Green Green List (high evidence)
SYNJ1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • juvenile Parkinsonism
  • Parkinson disease 20, early-onset
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)
SYT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Baker-Gordon syndrome MIM#618218
Tags
Green Green List (high evidence)
TBC1D24
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105
  • Episodic dystonia (Exercise induced or without clear trigger)
  • epilepsy
  • myoclonus
  • hearing loss
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)
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)
TH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Segawa syndrome, recessive, MIM# 605407
  • MONDO:0011551
Tags
Green Green List (high evidence)
THAP1
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 6, torsion, 602629
  • Dystonia
  • MONDO:0011264
Tags
Green Green List (high evidence)
TIMM8A
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Deafness-Dystonia-Optic Neuronopathy Syndrome
  • Mohr-Tranebjaerg syndrome, MIM# 304700
Tags
Green Green List (high evidence)
TMEM151A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Paroxysmal Kinesigenic Dyskinesia
  • episodic kinesigenic dyskinesia MONDO:0044202
Tags
Green Green List (high evidence)
TNPO2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Tags
Green Green List (high evidence)
TOR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal dominant or sporadic dystonia (DYT1)
  • Early-Onset Primary Dystonia
  • Dystonia-1, torsion, 128100
Tags
Green Green List (high evidence)
TPK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
  • Dystonia
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)
TREX1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750
Tags
Green Green List (high evidence)
TRPM3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224
Tags
Green Green List (high evidence)
TSPOAP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 22, MIM# 620453
Tags
Green Green List (high evidence)
TUBB4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • hereditary whispering dysphonia
  • Dystonia 4, torsion, autosomal dominant, 128101
  • Dystonia
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)
UBTF
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672
  • MONDO:0044701
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)
VAC14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054
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)
VAMP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760
  • Dystonia
  • Cortical visual impairment
  • Seizures
  • Stereotypic behaviour
  • Generalized hypotonia
  • Intellectual disability
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)
VPS13A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • complex parkinsonism
  • Choreoacanthocytosis 200150
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)
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)
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)
VPS16
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystonia 30, MIM#619291
Tags
Green Green List (high evidence)
VPS16
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 30, MIM#619291
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
1 review
1 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)
VPS4A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CIMDAG syndrome MIM# 619273
Tags
Green Green List (high evidence)
WARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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)
WDR45
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration with brain iron accumulation 5 300894
  • beta-propeller protein-associated neurodegeneration
  • Dystonia
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)
WDR73
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Galloway-Mowat syndrome 1, 251300
Tags
Green Green List (high evidence)
XDP
STR
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia-Parkinsonism, X-linked MIM#314250
Tags
  • founder
Green Green List (high evidence)
XDP
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)
XK
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
  • 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)
YIF1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kaya-Barakat-Masson syndrome, MIM# 619125
  • Central hypotonia
  • Failure to thrive
  • Microcephaly
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Spasticity
  • Abnormality of movement
Tags
Green Green List (high evidence)
YY1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Gabriele-de Vries syndrome 617557
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
Green Green List (high evidence)
ZNF526
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Tags
Amber Amber List (moderate evidence)
ABAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • GABA-transaminase deficiency, MIM# 613163
  • intellectual disability
  • autism
  • DEE
  • epilepsy
  • paroxysmal dyskinesia
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)
AFG3L2
3 reviews
1 green 2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic ataxia 5, autosomal recessive MIM#614487
  • Early-onset dystonia
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)
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)
ATP5B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inherited dystonia, MONDO:0044807, ATP5B-related
Tags
Amber Amber List (moderate evidence)
ATP7B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Wilson disease, MIM# 277900
Tags
Amber Amber List (moderate evidence)
CACNB4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 5, MIM#613855
Tags
Amber Amber List (moderate evidence)
CHD8
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, CHD8-related, MIM#615032
  • Dystonia
Tags
Amber Amber List (moderate evidence)
CIZ1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 23, 614860
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)
COL6A3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia 27, MIM#616411
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)
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)
FBXL4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Tags
Amber Amber List (moderate evidence)
GSX2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
  • Intellectual disability
  • Dystonia
  • Spastic tetra paresis
Tags
Amber Amber List (moderate evidence)
HACE1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
Tags
Amber Amber List (moderate evidence)
JPH3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • paroxysmal dystonia, intellectual disability
Tags
Amber Amber List (moderate evidence)
KIF1C
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic ataxia 2, autosomal recessive, MIM# 611302
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)
MAPT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Dementia, frontotemporal, with or without parkinsonism MIM#600274
Tags
Amber Amber List (moderate evidence)
NBEA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157
  • Paroxysmal Kinesigenic Dyskinesia
  • DEE
  • autism
  • intellectual disability
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)
NUP54
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dystonia 37, early-onset, with striatal lesions, MIM# 620427
  • Early onset dystonia
  • progressive neurological deterioration
  • ataxia
  • dysarthria
  • dysphagia
  • hypotonia
Tags
Amber Amber List (moderate evidence)
PRKN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Parkinson disease, juvenile, type 2 MIM#600116
  • paroxysmal exercise induced dyskinesia
  • fasting induced dyskinesia
  • early onset parkinsonism
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
  • Parkisonism
Tags
Amber Amber List (moderate evidence)
SAMHD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 5 MIM#612952
Tags
Amber Amber List (moderate evidence)
SHQ1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
Tags
Amber Amber List (moderate evidence)
UQCRC1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Parkinsonism with polyneuropathy, MIM# 619279
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)
XPR1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Basal ganglia calcification, idiopathic, 6, MIM# 616413
  • brain calcification
  • basal ganglia calcification
  • paroxysmal dyskinesia
  • epilepsy
  • DEE
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)
ANG
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Parkinson disease MONDO:0005180
Tags
Red Red List (low evidence)
CACNA1B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myoclonus-dystonia syndrome MONDO:0000903
Tags
Red Red List (low evidence)
CHMP2B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • familial frontotemporal lobar degeneration (ALS17)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • Dystonia
Tags
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)
DCTN1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Perry syndrome MIM#168605
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)
DRD2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Combined dystonia, MONDO:0020065, DRD2-related
  • dystonia
  • chorea
  • anxiety
  • ataxia
  • orofacial dyskinesia
  • tremor
  • memory problems
Tags
Red Red List (low evidence)
EARS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 12 MIM#614924
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)
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)
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)
KCNQ2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 7 MIM#613720
Tags
Red Red List (low evidence)
MAT1A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850
Tags
Red Red List (low evidence)
MMADHC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Homocystinuria, cblD type, variant 1 MIM#277410
Tags
Red Red List (low evidence)
MOGS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation, type IIb, MIM# 606056
Tags
Red Red List (low evidence)
MPV17
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
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)
PDGFRB
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Basal ganglia calcification, idiopathic, 4, MIM# 615007
Tags
Red Red List (low evidence)
PLP1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pelizaeus-Merzbacher disease MIM#312080
Tags
Red Red List (low evidence)
PODXL
1 review
 Unknown
Sources
  • Literature
Phenotypes
  • juvenile-onset Parkinson disease
Tags
Red Red List (low evidence)
PODXL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • juvenile-onset Parkinson disease
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)
RAB32
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Parkinson disease MONDO:0005180
Tags
Red Red List (low evidence)
RELN
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myoclonus-dystonia syndrome MONDO:0000903
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)
RNASEH2A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 4 MIM#610333
Tags
Red Red List (low evidence)
SLC20A2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600
  • Paroxysmal kinesigenic dyskinesia
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)
TOR1AIP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia, cerebellar atrophy, and cardiomyopathy
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)
UBR4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • early onset episodic ataxia
  • nystagmus
  • myokymia
  • tremor
Tags
Red Red List (low evidence)
UNC80
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801
  • MONDO:0014777
Tags
Red Red List (low evidence)
VPS11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dystonia 32, MIM# 619637
  • Dystonia, adult-onset
Tags
Red Red List (low evidence)
VPS37A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spastic paraplegia 53, autosomal recessive MIM#614898
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
No list No list
ATXN10
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Spinocerebellar Ataxia 10
  • Parkinsonism
  • OMIM 603516
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
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
C9orf72
1 review
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
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
MT-ND6
1 review
1 green 		MITOCHONDRIAL
Sources
  • Literature
Phenotypes
  • Leber Optic Atrophy
  • Parkinsonism
  • OMIM 516006
Tags
  • mtDNA
No list No list
NAA15
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • dystonia
  • neurodevelopmental delay
Tags
No list No list
PAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Phenylketonuria MIM#261600
Tags
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
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
Tags
  • deep intronic
  • founder
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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