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Prepair 1000+ v1.2159 | SCN1B | Zornitza Stark Marked gene: SCN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.2159 | SCN1B | Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.2159 | SCN1B | Zornitza Stark Classified gene: SCN1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.2159 | SCN1B | Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1568 | SCN1B | Andrew Coventry reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36291443, 31709768, 19710327, 23148524, 28218389, 33901312; Phenotypes: Developmental and epileptic encephalopathy 52 MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1 | SCN1B |
Crystle Lee gene: SCN1B was added gene: SCN1B was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: SCN1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN1B were set to 36291443; 31709768 Phenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy 52, MIM#617350 Review for gene: SCN1B was set to AMBER Added comment: Bi-allelic variants cause EE/ID. Heterozygous variants linked to cardiac phenotypes and to GEFS+ Sources: Literature |