| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 v0.125 | 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 |
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| 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 v0.0 | 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 |
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