PanelApp
  1. Panels
  2. Dystonia_Superpanel
Description
Superpanel of isolated/combined and complex dystonia panels, and the paroxysmal dyskinesia panel due to overlapping features of the conditions.

254 Entities

226 reviewed, 206 green

List Entity Reviews Mode of inheritance Details
254 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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • dystonia
  • Aicardi-Goutieres syndrome 6, 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)
ALDH5A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia-oculomotor apraxia type 1
  • Dystonia
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
  • STR
Green Green List (high evidence)
ARX_EIEE1_GCN1
STR
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Developmental and epileptic encephalopathy 1 MIM#308350
  • Intellectual disability, X-linked 29 and others MIM#300419
  • Partington syndrome MIM#309510
Tags
Green Green List (high evidence)
ARX_EIEE1_GCN2
STR
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 1 MIM#308350
  • Intellectual disability, X-linked 29 and others MIM#300419
  • Partington syndrome MIM#309510
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
1 review
1 green 		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
  • Royal Melbourne Hospital
Phenotypes
  • Kufor-Rakeb syndrome MIM#606693
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
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • ATP1A3-associated neurological disorder, MONDO:0700002
Tags
Green Green List (high evidence)
ATP2B2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Tags
Green Green List (high evidence)
ATP5A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD
Tags
  • new gene name
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)
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)
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
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, MIM#300475
Tags
Green Green List (high evidence)
C19orf12
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • neurodegeneration with brain iron accumulation 4 MONDO:0013674
Tags
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)
C9orf72_FTDALS_GGGGCC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Tags
Green Green List (high evidence)
CACNA1A
0 reviews
 Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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)
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)
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)
COASY
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • neurodegeneration with brain iron accumulation 6, MONDO:0014290
  • 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)
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)
DCAF17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Woodhouse-Sakati syndrome MONDO:0009419
  • Dystonia
Tags
Green Green List (high evidence)
DDC
1 review
1 green 		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
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)
DLAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency 245348
  • Dystonia
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)
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
  • Expert Review
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
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
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)
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)
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
1 review
1 green 		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
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)
FTL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration with brain iron accumulation 3, MIM# 606159
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)
GABRB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631
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)
GCDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • glutaryl-CoA dehydrogenase deficiency MONDO:0009281
Tags
  • treatable
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • GM1 gangliosidosis type 3 MONDO:0009262
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, 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)
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)
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, 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)
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
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 3-methylglutaconic aciduria type 8 MONDO:0044723
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)
KCNJ10
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related
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)
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
  • 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)
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)
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)
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)
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)
NAA15
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • dystonia
  • neurodevelopmental delay
Tags
Green Green List (high evidence)
NACC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • chorea
  • dystonia
  • epilepsy
  • microcephaly
  • cataracts
  • dysautonomia
  • iron deficiency anemia
  • stereotypies
Tags
Green Green List (high evidence)
NIT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brain small vessel disease 4, MIM# 621313
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Niemann-Pick disease, type C1 MONDO:0009757
Tags
Green Green List (high evidence)
NPC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Niemann-Pick disease, type C2 MONDO:0011873
  • 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)
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)
PAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Phenylketonuria MIM#261600
Tags
Green Green List (high evidence)
PANK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • pantothenate kinase-associated neurodegeneration MONDO:0009319
  • Dystonia
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)
PDE1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related
Tags
Green Green List (high evidence)
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)
PDGFB
1 review
1 green 		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
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)
PDHA1
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert 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)
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)
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)
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)
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)
PNPLA8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • POLR3A-related disorder MONDO:0700276
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)
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)
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)
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
  • PRRT2-associated paroxysmal movement disorder MONDO:0100556
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)
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)
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)
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
  • non-coding gene
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)
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)
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
  • Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
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)
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)
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)
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)
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)
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)
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)
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)
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
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
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)
SNORD118
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts MIM#614561
Tags
  • non-coding gene
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)
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)
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)
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)
TAF1_XDP_CCCTCT
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)
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)
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)
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)
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)
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)
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)
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)
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
  • Literature
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
  • Expert Review
Phenotypes
  • Dystonia 30, MIM#619291
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)
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)
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)
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)
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)
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 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)
ARFGEF3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dystonia, MONDO:0044807, ARFGEF3-related
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)
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)
DRD2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined dystonia, MONDO:0020065, DRD2-related
  • dystonia
  • chorea
  • anxiety
  • ataxia
  • orofacial dyskinesia
  • tremor
  • memory problems
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)
KCNQ2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 7 MIM#613720
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)
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)
MRPS36
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
Tags
  • new gene name
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)
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)
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)
SPR
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
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)
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)
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)
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)
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)
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
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • juvenile-onset Parkinson disease
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)
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)
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)
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
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
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

Downloads

Download lists

Download Version