PanelApp
  1. Panels
  2. Dystonia - isolated/combined
Description
This panel contains genes that cause hereditary isolated or combined dystonia. Isolated dystonia is classified as dystonia as the only motor feature with the exception of possible tremor, and combined dystonia is classified as dystonia with another movement disorder.
Panel Activity

11 reviewers

  • Tegan French (Victorian Clinical Genetics Services)

  • Eunice Chan (Royal Children's Hospital)

  • Laura Raiti (Royal Children's Hospital, Melbourne)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Shekeeb Mohammad (Children's Hospital at Westmead)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

41 Entities

41 reviewed, 31 green

List Entity Reviews Mode of inheritance Details
41 Entitiess
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)
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)
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)
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
  • Expert Review Green
Phenotypes
  • Dystonia 33, MIM# 619687
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)
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)
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)
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)
KCNMA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
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)
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)
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)
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)
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)
PARK7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset MIM#606324
Tags
Green Green List (high evidence)
PDE10A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Early onset chorea without epilepsy
  • infantile onset limb and orofacial dyskinesia (OMIM 616921)
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)
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)
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)
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)
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)
TAF1_XDP_CCCTCT
STR
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Dystonia-Parkinsonism, X-linked MIM#314250
Tags
  • founder
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)
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)
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)
VPS16
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dystonia 30, MIM#619291
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)
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
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)
PODXL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
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)
VPS11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dystonia 32, MIM# 619637
  • Dystonia, adult-onset
Tags
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

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