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| Ataxia - paediatric v0.252 | SCN2A | Zornitza Stark changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia, especially episodic ataxia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.252 | SCN2A | Zornitza Stark edited their review of gene: SCN2A: Changed publications: 31924505, 32893078, 31904126 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.166 | SCN2A | Zornitza Stark Marked gene: SCN2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.166 | SCN2A | Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.166 | SCN2A | Zornitza Stark Phenotypes for gene: SCN2A were changed from Early infantile epileptic encephalopathy 11 to Early infantile epileptic encephalopathy 11, MIM# 613721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.165 | SCN2A | Zornitza Stark reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.0 | SCN2A |
Bryony Thompson gene: SCN2A was added gene: SCN2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN2A were set to Early infantile epileptic encephalopathy 11 |
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