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Ataxia - paediatric v0.240 | IRF2BPL | Zornitza Stark reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.201 | IRF2BPL | Zornitza Stark Marked gene: IRF2BPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.201 | IRF2BPL | Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.201 | IRF2BPL | Zornitza Stark Publications for gene: IRF2BPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.0 | IRF2BPL |
Bryony Thompson gene: IRF2BPL was added gene: IRF2BPL was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 |