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

  • Sue White (Victorian Clinical Genetics Services)

  • Eunice Chan (Royal Children's Hospital)

  • SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Shekeeb Mohammad (Children's Hospital at Westmead)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Lynn Tan (Melbourne Health)

52 Entities

42 reviewed, 42 green

List Entity Reviews Mode of inheritance Details
52 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
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)
ATAD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
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
Phenotypes
  • 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
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
  • Expert Review Green
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)
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)
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)
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
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)
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)
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)
HIBCH
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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)
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
Phenotypes
  • Episodic ataxia
  • Epileptic encephalopathy, early infantile, 32, MIM# 616366
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
Phenotypes
  • 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
Phenotypes
  • Seizures, benign neonatal, 2, MIM# 121201
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)
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Basal ganglia calcification, idiopathic, 5, MIM# 615483
  • Paroxysmal nonkinesigenic dyskinesia
  • paroxysmal kinesigenic dyskinesia
  • Brain calcification
Tags
Green Green List (high evidence)
PDHA1
2 reviews
1 green 		Other
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • 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
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)
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)
PRRT2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis 602066
  • Episodic kinesigenic dyskinesia 1 128200
  • Seizures, benign familial infantile, 2 605751
Tags
Green Green List (high evidence)
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)
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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Hyperekplexia 3, MIM# 614618
Tags
Green Green List (high evidence)
SPR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TBC1D24
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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)
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
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)
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)
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)
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)
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)
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)
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)
SLC20A2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • 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
Phenotypes
  • early onset episodic ataxia
  • nystagmus
  • myokymia
  • tremor
Tags

Downloads

Download lists

Download Version