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Paroxysmal Dyskinesia v0.131 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Paroxysmal Dyskinesia v0.131 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.131 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from to Complex neurodevelopmental disorder MONDO:0100038
Paroxysmal Dyskinesia v0.130 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Paroxysmal Dyskinesia v0.129 SCN8A Zornitza Stark Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.128 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Paroxysmal Dyskinesia v0.128 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.128 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome MONDO:0000188
Paroxysmal Dyskinesia v0.127 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Paroxysmal Dyskinesia v0.126 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.125 SLC2A1 Lynn Tan reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18451999, 34279792, 18577546, 34305802, 27098784; Phenotypes: GLUT1 deficiency syndrome MONDO:0000188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Paroxysmal Dyskinesia v0.125 SCN8A Lynn Tan changed review comment from: PMID: 26677014 (2016)
3 families 16 individuals, cosegregating het missense SCN8A:c.4447G>A; p.E1483K (founder effect excluded by linkage analysis). 15/16 individuals seizures in first to second year of life, 1/16 seizures at school age. 5/16 patients developed additional brief paroxysmal episodes in puberty, either dystonic/dyskinetic or "shivering" attacks, triggered by stretching or motor initiation (3 patients from 2 families), or emotional stimuli (2 patients who were both from the same family).

PMID: 29356177 (2018)
De novo SCN8A mutation c.3640G>A (p.A1214T) in 23M with PKD

PMID: 25799905 (2015)
De novo dominant SCN8A (c.3979A>G; p.Ile1327Val) in male with in utero onset of movement disorder (exaggerated startle, paroxysmal posturing and jittery movements subsiding in sleep that on clinical and encephalographic grounds were not epileptic in nature), with evolving epilepsy, epileptic encephalopathy and developmental delay; to: PMID: 26677014 (2016)
3 families 16 individuals, cosegregating het missense SCN8A:c.4447G>A; p.E1483K (founder effect excluded by linkage analysis). All patients had seizures (15/16 individuals seizures in first to second year of life, 1/16 seizures at school age). 5/16 patients developed additional brief paroxysmal episodes in puberty, either dystonic/dyskinetic or "shivering" attacks, triggered by stretching or motor initiation (3 patients from 2 families), or emotional stimuli (2 patients who were both from the same family).

PMID: 29356177 (2018)
De novo SCN8A mutation c.3640G>A (p.A1214T) in 23M with PKD

PMID: 25799905 (2015)
De novo dominant SCN8A (c.3979A>G; p.Ile1327Val) in male with in utero onset of movement disorder (exaggerated startle, paroxysmal posturing and jittery movements subsiding in sleep that on clinical and encephalographic grounds were not epileptic in nature), with evolving epilepsy, epileptic encephalopathy and developmental delay
Paroxysmal Dyskinesia v0.125 SCN8A Lynn Tan reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677014, 29356177, 25799905; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Paroxysmal Dyskinesia v0.125 KIAA1161 Shekeeb Mohammad commented on gene: KIAA1161: Dyskinesia can be provoked by quick movement (Kinesigenic) or by Hyperventilation
Patients can present with acute hemiplegia
Paroxysmal Dyskinesia v0.125 KIAA1161 Shekeeb Mohammad edited their review of gene: KIAA1161: Changed phenotypes: paroxysmal kinesigenic dyskinesia, brain calcification, episodic hemiparesis
Paroxysmal Dyskinesia v0.125 ABAT Zornitza Stark Marked gene: ABAT as ready
Paroxysmal Dyskinesia v0.125 ABAT Zornitza Stark Gene: abat has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.125 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia to GABA-transaminase deficiency, MIM# 613163; intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia
Paroxysmal Dyskinesia v0.124 ABAT Zornitza Stark Classified gene: ABAT as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.124 ABAT Zornitza Stark Gene: abat has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.123 PDE2A Zornitza Stark Publications for gene: PDE2A were set to 32467598; 32196122; 29392776
Paroxysmal Dyskinesia v0.122 XPR1 Zornitza Stark Marked gene: XPR1 as ready
Paroxysmal Dyskinesia v0.122 XPR1 Zornitza Stark Gene: xpr1 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.122 XPR1 Zornitza Stark Phenotypes for gene: XPR1 were changed from brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE to Basal ganglia calcification, idiopathic, 6, MIM# 616413; brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE
Paroxysmal Dyskinesia v0.121 XPR1 Zornitza Stark Classified gene: XPR1 as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.121 XPR1 Zornitza Stark Gene: xpr1 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.120 CLDN5 Zornitza Stark Marked gene: CLDN5 as ready
Paroxysmal Dyskinesia v0.120 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.120 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Paroxysmal Dyskinesia v0.120 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.119 CLDN5 Zornitza Stark Phenotypes for gene: CLDN5 were changed from familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy to Syndromic disorder, MONDO:0002254, CLDN5-related; familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy
Paroxysmal Dyskinesia v0.119 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Paroxysmal Dyskinesia v0.119 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.118 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
Paroxysmal Dyskinesia v0.118 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.118 KIAA1161 Zornitza Stark Phenotypes for gene: KIAA1161 were changed from paroxysmal dyskinesia; brain calcification; episodic hemiparesis to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317; paroxysmal dyskinesia; brain calcification; episodic hemiparesis
Paroxysmal Dyskinesia v0.117 KIAA1161 Zornitza Stark Classified gene: KIAA1161 as Green List (high evidence)
Paroxysmal Dyskinesia v0.117 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.116 PRKN Zornitza Stark Marked gene: PRKN as ready
Paroxysmal Dyskinesia v0.116 PRKN Zornitza Stark Gene: prkn has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.116 PRKN Zornitza Stark Phenotypes for gene: PRKN were changed from paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism to Parkinson disease, juvenile, type 2 MIM#600116; paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism
Paroxysmal Dyskinesia v0.115 PRKN Zornitza Stark Classified gene: PRKN as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.115 PRKN Zornitza Stark Gene: prkn has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.114 NBEA Zornitza Stark Marked gene: NBEA as ready
Paroxysmal Dyskinesia v0.114 NBEA Zornitza Stark Gene: nbea has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.114 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability
Paroxysmal Dyskinesia v0.113 NBEA Zornitza Stark Classified gene: NBEA as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.113 NBEA Zornitza Stark Gene: nbea has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.112 ABAT Shekeeb Mohammad gene: ABAT was added
gene: ABAT was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 30617166
Phenotypes for gene: ABAT were set to intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia
Review for gene: ABAT was set to AMBER
gene: ABAT was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 PDE2A Shekeeb Mohammad reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37317634; Phenotypes: paroxysmal dyskinesia, intellectual disability, drug resistant epilepsy, progressive neurological decline, chorea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paroxysmal Dyskinesia v0.112 XPR1 Shekeeb Mohammad gene: XPR1 was added
gene: XPR1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: XPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPR1 were set to 33433330
Phenotypes for gene: XPR1 were set to brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE
Review for gene: XPR1 was set to AMBER
gene: XPR1 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 CLDN5 Shekeeb Mohammad gene: CLDN5 was added
gene: CLDN5 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN5 were set to 35714222; 36825455
Phenotypes for gene: CLDN5 were set to familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy
Penetrance for gene: CLDN5 were set to Incomplete
Review for gene: CLDN5 was set to GREEN
gene: CLDN5 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 KIAA1161 Shekeeb Mohammad gene: KIAA1161 was added
gene: KIAA1161 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 34346093; 34783389; 32303062
Phenotypes for gene: KIAA1161 were set to paroxysmal dyskinesia; brain calcification; episodic hemiparesis
Penetrance for gene: KIAA1161 were set to Complete
Review for gene: KIAA1161 was set to GREEN
gene: KIAA1161 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 PRKN Shekeeb Mohammad gene: PRKN was added
gene: PRKN was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to 37205242
Phenotypes for gene: PRKN were set to paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism
Penetrance for gene: PRKN were set to Incomplete
Review for gene: PRKN was set to AMBER
Added comment: Only a single report but the phenotypic description and accompanying parkinsonism make this a likely robust finding.
Sources: Literature
Paroxysmal Dyskinesia v0.112 NBEA Shekeeb Mohammad gene: NBEA was added
gene: NBEA was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 33692494
Phenotypes for gene: NBEA were set to Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to AMBER
Added comment: only one report and I have seen a poster from an independent group (not published yet)
Sources: Literature
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Classified gene: GABRB3 as Green List (high evidence)
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.111 GABRB3 Michelle Torres gene: GABRB3 was added
gene: GABRB3 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB3 were set to 37647766
Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113
Mode of pathogenicity for gene: GABRB3 was set to Other
Review for gene: GABRB3 was set to GREEN
Added comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.

Gain-of-function variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.

LoF variants have not been associated with microcephaly and movement disorders either.
Sources: Literature
Paroxysmal Dyskinesia v0.111 CASR Zornitza Stark Marked gene: CASR as ready
Paroxysmal Dyskinesia v0.111 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.111 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification to Hypocalciuric hypercalcemia, type I, MIM# 145980; Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification
Paroxysmal Dyskinesia v0.110 CASR Zornitza Stark Classified gene: CASR as Green List (high evidence)
Paroxysmal Dyskinesia v0.110 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.109 CASR Shekeeb Mohammad gene: CASR was added
gene: CASR was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CASR were set to 34913197
Phenotypes for gene: CASR were set to Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification
Review for gene: CASR was set to GREEN
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.109 SHQ1 Zornitza Stark Marked gene: SHQ1 as ready
Paroxysmal Dyskinesia v0.109 SHQ1 Zornitza Stark Gene: shq1 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.109 SHQ1 Zornitza Stark Phenotypes for gene: SHQ1 were changed from PAROXYSMAL DYSTONIA; INTELLECTUAL DISABILITY; HYPOTONIA; CHOREOATHETOSIS; EPILEPSY to Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
Paroxysmal Dyskinesia v0.108 SHQ1 Zornitza Stark Publications for gene: SHQ1 were set to
Paroxysmal Dyskinesia v0.107 SHQ1 Zornitza Stark edited their review of gene: SHQ1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.107 SHQ1 Zornitza Stark Classified gene: SHQ1 as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.107 SHQ1 Zornitza Stark Gene: shq1 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.106 SHQ1 Zornitza Stark commented on gene: SHQ1: Four unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration; now Family 4: paroxysmal dyskinesia and hypotonia.

All likely represent a spectrum but caution warranted.
Paroxysmal Dyskinesia v0.106 SHQ1 Zornitza Stark edited their review of gene: SHQ1: Changed rating: AMBER; Changed publications: 36847845
Paroxysmal Dyskinesia v0.106 SHQ1 Zornitza Stark reviewed gene: SHQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dystonia and seizures, MIM# 619922; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.106 SHQ1 Shekeeb Mohammad changed review comment from: Sources: Literature; to: Sources: Literature: PMID: 36847845
Paroxysmal Dyskinesia v0.106 SHQ1 Shekeeb Mohammad gene: SHQ1 was added
gene: SHQ1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SHQ1 were set to PAROXYSMAL DYSTONIA; INTELLECTUAL DISABILITY; HYPOTONIA; CHOREOATHETOSIS; EPILEPSY
Review for gene: SHQ1 was set to GREEN
gene: SHQ1 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.106 JPH3 Zornitza Stark Marked gene: JPH3 as ready
Paroxysmal Dyskinesia v0.106 JPH3 Zornitza Stark Gene: jph3 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.106 JPH3 Zornitza Stark Mode of pathogenicity for gene: JPH3 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Paroxysmal Dyskinesia v0.105 JPH3 Zornitza Stark Classified gene: JPH3 as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.105 JPH3 Zornitza Stark Gene: jph3 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.104 JPH3 Zornitza Stark changed review comment from: Two families reported with bi-allelic variants and neurodevelopmental disorder involving paroxysmal dystonia. One family with mono-allelic variant, milder.; to: Two families reported with bi-allelic variants and neurodevelopmental disorder involving paroxysmal dystonia. One family with mono-allelic variant, milder.

Note STRs in this gene cause a separate disorder.
Paroxysmal Dyskinesia v0.104 JPH3 Zornitza Stark reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36273396; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, JPH3-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.104 JPH3 SHEKEEB MOHAMMAD gene: JPH3 was added
gene: JPH3 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: JPH3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: JPH3 were set to PMID: 36273396
Phenotypes for gene: JPH3 were set to paroxysmal dystonia, intellectual disability
Penetrance for gene: JPH3 were set to unknown
Mode of pathogenicity for gene: JPH3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: JPH3 was set to GREEN
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.104 Zornitza Stark HPO terms changed from to Paroxysmal dyskinesia, HP:0007166
List of related panels changed from to Paroxysmal dyskinesia; HP:0007166
Paroxysmal Dyskinesia v0.103 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Paroxysmal Dyskinesia v0.103 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.103 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Paroxysmal Dyskinesia v0.102 KCNMA1 Zornitza Stark Publications for gene: KCNMA1 were set to
Paroxysmal Dyskinesia v0.101 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.100 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.100 TMEM151A Bryony Thompson Phenotypes for gene: TMEM151A were changed from Paroxysmal Kinesigenic Dyskinesia to Paroxysmal Kinesigenic Dyskinesia; episodic kinesigenic dyskinesia MONDO:0044202
Paroxysmal Dyskinesia v0.99 TMEM151A Bryony Thompson Classified gene: TMEM151A as Green List (high evidence)
Paroxysmal Dyskinesia v0.99 TMEM151A Bryony Thompson Added comment: Comment on list classification: PMID: 34820915 - 24 heterozygous TMEM151A variants detected in 29 PRRT2-negative patients from 25 families
PMID: 34518509 - TMEM151A variants identified in 3 AD families and 8 isolated PKD patients with incomplete penetrance identified in 3 of the isolated cases. Also, supporting mouse model and in vitro functional assays suggesting loss of function as the mechanism of disease.
Paroxysmal Dyskinesia v0.99 TMEM151A Bryony Thompson Gene: tmem151a has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.98 TMEM151A Shekeeb Mohammad gene: TMEM151A was added
gene: TMEM151A was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM151A were set to 34820915; 34518509
Phenotypes for gene: TMEM151A were set to Paroxysmal Kinesigenic Dyskinesia
Review for gene: TMEM151A was set to GREEN
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.98 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to 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
Paroxysmal Dyskinesia v0.97 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Paroxysmal Dyskinesia v0.96 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed 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; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark Marked gene: ADCY5 as ready
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707
Paroxysmal Dyskinesia v0.94 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to
Paroxysmal Dyskinesia v0.93 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.92 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22782511, 24700542, 33051786, 32647899, 33704598; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.92 PDE2A Zornitza Stark Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Paroxysmal Dyskinesia v0.91 PDE2A Zornitza Stark edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Paroxysmal Dyskinesia v0.90 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Paroxysmal Dyskinesia v0.89 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.89 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.88 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Paroxysmal Dyskinesia v0.87 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Paroxysmal Dyskinesia v0.86 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.85 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.85 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Paroxysmal Dyskinesia v0.85 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.85 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618
Paroxysmal Dyskinesia v0.84 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Paroxysmal Dyskinesia v0.83 SLC6A5 Zornitza Stark Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.82 SLC6A5 Zornitza Stark reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.82 RHOBTB2 Zornitza Stark Marked gene: RHOBTB2 as ready
Paroxysmal Dyskinesia v0.82 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.82 RHOBTB2 Zornitza Stark Phenotypes for gene: RHOBTB2 were changed from Paroxysmal movement disorder to Epileptic encephalopathy, early infantile, 64, MIM# 618004; Paroxysmal movement disorder
Paroxysmal Dyskinesia v0.81 RHOBTB2 Zornitza Stark Classified gene: RHOBTB2 as Green List (high evidence)
Paroxysmal Dyskinesia v0.81 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.80 RHOBTB2 Zornitza Stark reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 64, MIM# 618004; Mode of inheritance: None
Paroxysmal Dyskinesia v0.80 RHOBTB2 Eunice Chan gene: RHOBTB2 was added
gene: RHOBTB2 was added to Paroxysmal Dyskinesia. Sources: Other
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOBTB2 were set to PMID 29276004
Phenotypes for gene: RHOBTB2 were set to Paroxysmal movement disorder
Added comment: At least 5/10 patients described had paroxysmal, or chorea-like movements
8/10 have a movement disorder
Sources: Other
Paroxysmal Dyskinesia v0.80 ATP7B Zornitza Stark Classified gene: ATP7B as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.80 ATP7B Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.79 ATP7B Zornitza Stark changed review comment from: In a recent cohort of 82 affected individuals, movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%).

Paroxysmal dyskinesia does not appear to be a common feature, and the gene is already included in the Dystonia_Complex panel.; to: In a recent cohort of 82 affected individuals, movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%).

Paroxysmal dyskinesia does not appear to be a common feature, and the gene is already included in the Dystonia_Complex panel. However, there are rare reports and this is a treatable disorder.
Paroxysmal Dyskinesia v0.79 ATP7B Zornitza Stark edited their review of gene: ATP7B: Changed rating: AMBER
Paroxysmal Dyskinesia v0.76 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Paroxysmal Dyskinesia v0.76 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.76 CACNA1S Zornitza Stark Phenotypes for gene: CACNA1S were changed from to Hypokalemic periodic paralysis, type 1, MIM# 170400
Paroxysmal Dyskinesia v0.75 CACNA1S Zornitza Stark Publications for gene: CACNA1S were set to
Paroxysmal Dyskinesia v0.74 CACNA1S Zornitza Stark Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.73 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.73 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Paroxysmal Dyskinesia v0.73 ATP7B Zornitza Stark Gene: atp7b has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.73 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Paroxysmal Dyskinesia v0.72 ATP7B Zornitza Stark Publications for gene: ATP7B were set to
Paroxysmal Dyskinesia v0.71 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.70 ATP7B Zornitza Stark Classified gene: ATP7B as Red List (low evidence)
Paroxysmal Dyskinesia v0.70 ATP7B Zornitza Stark Gene: atp7b has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.69 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: None; Publications: 32662046; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.69 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Paroxysmal Dyskinesia v0.69 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.69 ATAD1 Zornitza Stark Classified gene: ATAD1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.69 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.68 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 28180185; 29390050; 29659736
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011
Review for gene: ATAD1 was set to GREEN
Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures.
Sources: Expert list
Paroxysmal Dyskinesia v0.67 Zornitza Stark removed gene:ADAT1 from the panel
Paroxysmal Dyskinesia v0.66 ADAT1 Zornitza Stark Marked gene: ADAT1 as ready
Paroxysmal Dyskinesia v0.66 ADAT1 Zornitza Stark Gene: adat1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.66 ADAT1 Zornitza Stark Classified gene: ADAT1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.66 ADAT1 Zornitza Stark Gene: adat1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.65 ADAT1 Zornitza Stark gene: ADAT1 was added
gene: ADAT1 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: ADAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT1 were set to 28180185; 29390050; 29659736
Phenotypes for gene: ADAT1 were set to Hyperekplexia 4, MIM#618011
Review for gene: ADAT1 was set to GREEN
Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures.
Sources: Expert list
Paroxysmal Dyskinesia v0.64 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Paroxysmal Dyskinesia v0.64 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.64 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM# 612656
Paroxysmal Dyskinesia v0.63 SLC1A3 Zornitza Stark Publications for gene: SLC1A3 were set to
Paroxysmal Dyskinesia v0.62 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.61 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19139306, 16116111, 29208948, 27829685; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.61 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Paroxysmal Dyskinesia v0.61 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.61 UBR4 Zornitza Stark Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094
Paroxysmal Dyskinesia v0.60 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.59 UBR4 Zornitza Stark Classified gene: UBR4 as Red List (low evidence)
Paroxysmal Dyskinesia v0.59 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.58 UBR4 Zornitza Stark changed review comment from: Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases.; to: Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases. Variants in other putative ataxia genes present in some of the individuals.
Paroxysmal Dyskinesia v0.58 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: 23982692, 29062094; Phenotypes: Episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.58 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Paroxysmal Dyskinesia v0.58 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.58 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss to 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
Paroxysmal Dyskinesia v0.57 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.56 TBC1D24 Zornitza Stark reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 31257402; Phenotypes: Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.56 TBC1D24 Zornitza Stark Classified gene: TBC1D24 as Green List (high evidence)
Paroxysmal Dyskinesia v0.56 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.55 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Paroxysmal Dyskinesia v0.55 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.55 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy. to 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.
Paroxysmal Dyskinesia v0.54 HIBCH Zornitza Stark Classified gene: HIBCH as Green List (high evidence)
Paroxysmal Dyskinesia v0.54 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.53 HIBCH Zornitza Stark reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.53 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Paroxysmal Dyskinesia v0.53 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.53 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification to Basal ganglia calcification, idiopathic, 1, MIM# 213600; Paroxysmal kinesigenic dyskinesia
Paroxysmal Dyskinesia v0.52 SLC20A2 Zornitza Stark Publications for gene: SLC20A2 were set to PMID 24411498
Paroxysmal Dyskinesia v0.51 SLC20A2 Zornitza Stark Classified gene: SLC20A2 as Red List (low evidence)
Paroxysmal Dyskinesia v0.51 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.50 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: 22327515, 23334463, 24411498; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.50 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Paroxysmal Dyskinesia v0.50 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.50 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia to Allan-Herndon-Dudley syndrome, MIM# 300523; paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia
Paroxysmal Dyskinesia v0.49 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to PMID 20301789
Paroxysmal Dyskinesia v0.48 SLC16A2 Zornitza Stark Mode of inheritance for gene: SLC16A2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal Dyskinesia v0.47 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Green List (high evidence)
Paroxysmal Dyskinesia v0.47 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.46 SLC16A2 Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal Dyskinesia v0.46 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Paroxysmal Dyskinesia v0.46 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.46 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification to Basal ganglia calcification, idiopathic, 5, MIM# 615483; Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification
Paroxysmal Dyskinesia v0.45 PDGFB Zornitza Stark Publications for gene: PDGFB were set to PMID 28556368; PMID 32443735
Paroxysmal Dyskinesia v0.44 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.43 PDGFB Zornitza Stark Classified gene: PDGFB as Green List (high evidence)
Paroxysmal Dyskinesia v0.43 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.42 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM# 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.42 UBR4 Eunice Chan gene: UBR4 was added
gene: UBR4 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: UBR4 was set to Unknown
Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094
Phenotypes for gene: UBR4 were set to early onset episodic ataxia; nystagmus; myokymia; tremor
Paroxysmal Dyskinesia v0.42 TBC1D24 Eunice Chan gene: TBC1D24 was added
gene: TBC1D24 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: TBC1D24 was set to Unknown
Publications for gene: TBC1D24 were set to PMID 31257402; PMID 31226716; PMID 25719194
Phenotypes for gene: TBC1D24 were set to Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss
Added comment: Main phenotype with epilepsy and seizures.
Other phenotypes include paroxysmal exercise induced dyskinesia, episodic dystonia, DOORS, non-syndromic hearing loss, myoclonus
Sources: Expert list
Paroxysmal Dyskinesia v0.42 HIBCH Eunice Chan gene: HIBCH was added
gene: HIBCH was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to PMID 31679561
Phenotypes for gene: HIBCH were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy.
Added comment: OMIM 610690
If mild phenotype, can present with PED, hyperCKaemia, hyperammoniaemia and pallidal hyperintensities on MRI
Sources: Expert list
Paroxysmal Dyskinesia v0.42 SLC20A2 Eunice Chan gene: SLC20A2 was added
gene: SLC20A2 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC20A2 were set to PMID 24411498
Phenotypes for gene: SLC20A2 were set to Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification
Added comment: Case report of 1 family
Sources: Expert list
Paroxysmal Dyskinesia v0.42 SLC16A2 Eunice Chan gene: SLC16A2 was added
gene: SLC16A2 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: SLC16A2 was set to Other
Publications for gene: SLC16A2 were set to PMID 20301789
Phenotypes for gene: SLC16A2 were set to paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia
Added comment: X-linked inheritance
Allan-Herndon-Dudley Syndrome
paroxysmal dystonic dyskinesia triggered by poassive movements, excitement, crying
High fT3 also characteristic
Please also include on dystonia-Complex panel
Sources: Expert list
Paroxysmal Dyskinesia v0.42 PDGFB Eunice Chan reviewed gene: PDGFB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal Dyskinesia v0.42 PDGFB Eunice Chan gene: PDGFB was added
gene: PDGFB was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: PDGFB was set to Unknown
Publications for gene: PDGFB were set to PMID 28556368; PMID 32443735
Phenotypes for gene: PDGFB were set to Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification
Paroxysmal Dyskinesia v0.42 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Paroxysmal Dyskinesia v0.42 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.42 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Episodic ataxia; Epileptic encephalopathy, early infantile, 32, MIM# 616366
Paroxysmal Dyskinesia v0.41 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Paroxysmal Dyskinesia v0.40 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.39 KCNA2 Zornitza Stark edited their review of gene: KCNA2: Changed rating: GREEN
Paroxysmal Dyskinesia v0.39 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: ; Mode of pathogenicity: None; Publications: 27733563, 27543892, 25477152; Phenotypes: Episodic ataxia, Epileptic encephalopathy, early infantile, 32 616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.39 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonia congenita, dominant, MIM# 160800, Myotonia congenita, recessive, MIM# 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.39 PDE2A Zornitza Stark Marked gene: PDE2A as ready
Paroxysmal Dyskinesia v0.39 PDE2A Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.39 PDE2A Zornitza Stark Classified gene: PDE2A as Green List (high evidence)
Paroxysmal Dyskinesia v0.39 PDE2A Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.38 PDE2A Zornitza Stark gene: PDE2A was added
gene: PDE2A was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE2A were set to 32467598; 32196122; 29392776
Phenotypes for gene: PDE2A were set to Paroxysmal dyskinesia
Review for gene: PDE2A was set to GREEN
Added comment: Four unrelated families reported with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. One of the reports characterises the disorder as 'Rett-like'.
Sources: Literature
Paroxysmal Dyskinesia v0.37 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Marked gene: GLRB as ready
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Paroxysmal Dyskinesia v0.35 GLRB Zornitza Stark Publications for gene: GLRB were set to
Paroxysmal Dyskinesia v0.34 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.33 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858, 27843043; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Paroxysmal Dyskinesia v0.32 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Paroxysmal Dyskinesia v0.31 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.30 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.30 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Paroxysmal Dyskinesia v0.30 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.30 CLCN1 Zornitza Stark Phenotypes for gene: CLCN1 were changed from to Myotonia congenita, dominant, MIM# 160800; Myotonia congenita, recessive, MIM# 255700
Paroxysmal Dyskinesia v0.29 CLCN1 Sue White Classified gene: CLCN1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.29 CLCN1 Sue White Gene: clcn1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.28 CLCN1 Sue White gene: CLCN1 was added
gene: CLCN1 was added to Paroxysmal Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added comment: Mono- and biallelic variants cause mytonia congenita, which is an important differential diagnosis to other movement disorder presentations
Sources: Expert Review
Paroxysmal Dyskinesia v0.27 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dopa-responsive dystonia, exercise-induced dystonia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Marked gene: PNKD as ready
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
Paroxysmal Dyskinesia v0.26 PNKD Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.25 PNKD Zornitza Stark reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Phenotypes for gene: ECHS1 were changed from early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)
Paroxysmal Dyskinesia v0.24 ECHS1 Zornitza Stark Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27090768, 28039521; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277, paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy. to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Paroxysmal dyskinesia (exercise induced or without clear trigger
Paroxysmal Dyskinesia v0.21 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328)
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20002125, 22079328; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170, Paroxysmal dyskinesia (exercise induced or without clear trigger; Mode of inheritance: Other
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark Classified gene: PDHA1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Marked gene: PDHX as ready
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from to Lactic acidemia due to PDX1 deficiency, MIM# 245349; episodic dystonia; Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features)
Paroxysmal Dyskinesia v0.18 PDHX Zornitza Stark Publications for gene: PDHX were set to
Paroxysmal Dyskinesia v0.17 PDHX Zornitza Stark Mode of inheritance for gene: PDHX was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.16 PDHX Zornitza Stark Classified gene: PDHX as Green List (high evidence)
Paroxysmal Dyskinesia v0.16 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark commented on gene: PDHX: Paroxysmal dystonia secondary to basal ganglia lesions
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark edited their review of gene: PDHX: Changed publications: 16566017, 20002125
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16566017; Phenotypes: Lactic acidemia due to PDX1 deficiency, MIM# 245349, episodic dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Marked gene: DLAT as ready
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency, MIM# 245348; Episodic dystonia (Exercise induced or without clear trigger)
Paroxysmal Dyskinesia v0.14 DLAT Zornitza Stark Publications for gene: DLAT were set to
Paroxysmal Dyskinesia v0.13 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
Paroxysmal Dyskinesia v0.13 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.12 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20022530, 29093066; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM# 245348, Episodic dystonia (Exercise induced or without clear trigger); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from Dopa-responsive dystonia; exercise-induced dystonia to Dopa-responsive dystonia; exercise-induced dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
Paroxysmal Dyskinesia v0.11 GCH1 Zornitza Stark Classified gene: GCH1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.11 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan edited their review of gene: GCH1: Changed phenotypes: Dopa-responsive dystonia, exercise-induced dystonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan commented on gene: GCH1
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan gene: GCH1 was added
gene: GCH1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dopa-responsive dystonia; exercise-induced dystonia
Paroxysmal Dyskinesia v0.10 DLAT Eunice Chan edited their review of gene: DLAT: Changed publications: McWilliam et al. 2010. Eur J Paediatr Neurol 14(4):349-53 (PMID: 2002, 2530), Friedman J et al. 2017. Neurology 89: 2297-2298 (PMID:; Changed phenotypes: Episodic dystonia (Exercise induced or without clear trigger)
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan commented on gene: PDHX: PDX1 deficiency
Paroxysmal Dyskinesia v0.10 DLAT Eunice Chan gene: DLAT was added
gene: DLAT was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Also known as pyruvate dehydrogenase E2 deficiency
Sources: Literature
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan reviewed gene: PDHX: Rating: ; Mode of pathogenicity: None; Publications: Schiff et al 2006 Ann Neurol 59(4):709-14 (PMID: 1656, 6017); Phenotypes: Paroxysmal dyskinesia (exercise induced or without clear trigger, isolated or with additional features), mitochondrial disorder (Leigh syndrome, ataxia), neurodevelopmental disability, epilepsy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan gene: PDHX was added
gene: PDHX was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: PDHX was set to Other
Paroxysmal Dyskinesia v0.10 PDHA1 Eunice Chan gene: PDHA1 was added
gene: PDHA1 was added to Paroxysmal Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: PDHA1 was set to Other
Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328)
Phenotypes for gene: PDHA1 were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy.
Added comment: Phenotype can be quite broad
XLR inheritance - phenotype in females dependent on X-chromosome inactivation patterns

May respond to thiamine supplementation
Sources: Expert Review
Paroxysmal Dyskinesia v0.10 ECHS1 Eunice Chan gene: ECHS1 was added
gene: ECHS1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)
Phenotypes for gene: ECHS1 were set to early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)
Added comment: PxD phenotype
- intermittent episodes of long-duration dystonia or episodes of dystonia induced by sustained exercise
Sources: Literature
Paroxysmal Dyskinesia v0.10 PNKD Eunice Chan commented on gene: PNKD
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Paroxysmal Dyskinesia v0.9 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Paroxysmal Dyskinesia v0.8 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Paroxysmal Dyskinesia v0.7 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.6 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.6 Zornitza Stark Panel name changed from Paroxysmal dyskinesia_VCGS to Paroxysmal Dyskinesia
Panel types changed to Victorian Clinical Genetics Services
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Paroxysmal Dyskinesia v0.4 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Paroxysmal Dyskinesia v0.3 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.2 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.2 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.1 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.1 Zornitza Stark Panel status changed from internal to public
Paroxysmal Dyskinesia v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNJ2 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNA1S was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNMA1 Zornitza Stark gene: KCNMA1 was added
gene: KCNMA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNMA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN4A was set to Unknown
Paroxysmal Dyskinesia v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SPR was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC6A5 was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC2A1 was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC1A3 Zornitza Stark gene: SLC1A3 was added
gene: SLC1A3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC1A3 was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN8A was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN2A was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN1A was set to Unknown
Paroxysmal Dyskinesia v0.0 PRRT2 Zornitza Stark gene: PRRT2 was added
gene: PRRT2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: PRRT2 was set to Unknown
Paroxysmal Dyskinesia v0.0 PNKD Zornitza Stark gene: PNKD was added
gene: PNKD was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: PNKD was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNQ3 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNQ2 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNA2 Zornitza Stark gene: KCNA2 was added
gene: KCNA2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNA2 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 GLRB Zornitza Stark gene: GLRB was added
gene: GLRB was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GLRB was set to Unknown
Paroxysmal Dyskinesia v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GLRA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 GNAO1 Zornitza Stark gene: GNAO1 was added
gene: GNAO1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GNAO1 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNB4 Zornitza Stark gene: CACNB4 was added
gene: CACNB4 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNB4 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNA1A was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP7B was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP1A3 was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP1A2 was set to Unknown
Paroxysmal Dyskinesia v0.0 ADCY5 Zornitza Stark gene: ADCY5 was added
gene: ADCY5 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ADCY5 was set to Unknown
Paroxysmal Dyskinesia v0.0 Zornitza Stark Added panel Paroxysmal dyskinesia_VCGS