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Imprinting disorders v0.40 | SGCE | Zornitza Stark Phenotypes for gene: SGCE were changed from Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia; Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Imprinting disorders v0.39 | SGCE | Zornitza Stark Marked gene: SGCE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Imprinting disorders v0.39 | SGCE | Zornitza Stark Gene: sgce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Imprinting disorders v0.39 | SGCE | Zornitza Stark Publications for gene: SGCE were set to 25209853; 23237735; 23365103; 30794780; 11528394; 12325078; 17200151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Imprinting disorders v0.38 | SGCE | Zornitza Stark Publications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Imprinting disorders v0.3 | SGCE | Anna Le Fevre reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528394, 12325078, 17200151, 16227522, 20301587, 33200041; Phenotypes: myoclonus, dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Imprinting disorders v0.0 | SGCE |
Zornitza Stark gene: SGCE was added gene: SGCE was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780 Phenotypes for gene: SGCE were set to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia |