PanelApp (test)
  1. Panels
  2. Paroxysmal Dyskinesia
Description
With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.

Please consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.
Panel Activity

8 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Sue White (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Eunice Chan (Royal Children's Hospital)

  • Shekeeb Mohammad (Children's Hospital at Westmead)

  • SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

  • Lynn Tan (Melbourne Health)

54 Entities

45 reviewed, 43 green

List Entity Reviews Mode of inheritance Details
54 Entitiess
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
Disease associations
  • 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
Disease associations
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
Green Green List (high evidence)
ATAD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Hyperekplexia 4, MIM#618011
Tags
Green Green List (high evidence)
ATP1A2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • 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
Disease associations
  • ATP1A3-associated neurological disorder, MONDO:0700002
Tags
Green Green List (high evidence)
CACNA1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
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
Disease associations
  • Hypokalemic periodic paralysis, type 1, MIM# 170400
Tags
Green Green List (high evidence)
CASR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • 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
  • Expert Review Green
Disease associations
  • 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
Disease associations
  • Syndromic disorder, MONDO:0002254, CLDN5-related
  • familial migraine
  • alternating hemiplegia
  • hemiplegic migraine
  • brain calcification
  • acquired microcephaly
  • epilepsy
Tags
Green Green List (high evidence)
DLAT
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Pyruvate dehydrogenase E2 deficiency, MIM# 245348
  • Episodic dystonia (Exercise induced or without clear trigger)
Tags
Green Green List (high evidence)
ECHS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • 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)
GABRB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Developmental and epileptic encephalopathy 43 MIM#617113
Tags
Green Green List (high evidence)
GCH1
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Dopa-responsive dystonia
  • exercise-induced dystonia
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
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
Disease associations
  • 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
Disease associations
  • Hyperekplexia 2, MIM# 614619
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
Disease associations
  • Epileptic encephalopathy, early infantile, 17
  • Neurodevelopmental disorder with involuntary movements
Tags
Green Green List (high evidence)
HIBCH
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • 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)
KCNA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • 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
Disease associations
  • 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
Disease associations
  • Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related
Tags
Green Green List (high evidence)
KCNJ2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • 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
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Disease associations
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Tags
Green Green List (high evidence)
KCNQ2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • 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
Disease associations
  • Seizures, benign neonatal, 2, MIM# 121201
Tags
Green Green List (high evidence)
MYORG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317
  • paroxysmal dyskinesia
  • brain calcification
  • episodic hemiparesis
Tags
Green Green List (high evidence)
PDE2A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Paroxysmal dyskinesia
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Tags
Green Green List (high evidence)
PDGFB
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • 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
  • Expert Review Green
Disease associations
  • Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
  • Paroxysmal dyskinesia (exercise induced or without clear trigger
Tags
Green Green List (high evidence)
PDHX
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • 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)
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
Disease associations
  • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
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
Disease associations
  • PRRT2-associated paroxysmal movement disorder MONDO:0100556
Tags
Green Green List (high evidence)
RHOBTB2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Disease associations
  • Epileptic encephalopathy, early infantile, 64, MIM# 618004
  • Paroxysmal movement disorder
Tags
Green Green List (high evidence)
SCN1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SCN2A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SCN4A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • 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
Disease associations
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
SLC16A2
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Allan-Herndon-Dudley syndrome, MIM# 300523
  • paroxysmal dyskinesia (passive movement trigger)
  • neurodevelopmental disability, hypotonia
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
Disease associations
  • Episodic ataxia, type 6, MIM# 612656
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
Disease associations
  • GLUT1 deficiency syndrome MONDO:0000188
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
Disease associations
  • Hyperekplexia 3, MIM# 614618
Tags
Green Green List (high evidence)
TBC1D24
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • 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)
TMEM151A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Paroxysmal Kinesigenic Dyskinesia
  • episodic kinesigenic dyskinesia MONDO:0044202
Tags
Amber Amber List (moderate evidence)
ABAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • GABA-transaminase deficiency, MIM# 613163
  • intellectual disability
  • autism
  • DEE
  • epilepsy
  • paroxysmal dyskinesia
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
Disease associations
  • 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
Disease associations
  • Episodic ataxia, type 5, MIM#613855
Tags
Amber Amber List (moderate evidence)
JPH3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • paroxysmal dystonia, intellectual disability
Tags
Amber Amber List (moderate evidence)
NBEA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157
  • Paroxysmal Kinesigenic Dyskinesia
  • DEE
  • autism
  • intellectual disability
Tags
Amber Amber List (moderate evidence)
PRKN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Parkinson disease, juvenile, type 2 MIM#600116
  • paroxysmal exercise induced dyskinesia
  • fasting induced dyskinesia
  • early onset parkinsonism
Tags
Amber Amber List (moderate evidence)
SHQ1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • 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
Disease associations
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
Tags
Amber Amber List (moderate evidence)
XPR1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Basal ganglia calcification, idiopathic, 6, MIM# 616413
  • brain calcification
  • basal ganglia calcification
  • paroxysmal dyskinesia
  • epilepsy
  • DEE
Tags
Red Red List (low evidence)
SLC20A2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600
  • Paroxysmal kinesigenic dyskinesia
Tags
Red Red List (low evidence)
UBR4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • early onset episodic ataxia
  • nystagmus
  • myokymia
  • tremor
Tags

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