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Early onset or syndromic epilepsy v2.321 IRF2BPL Sarah Leigh Publications for gene: IRF2BPL were set to 30057031; 28135719; 25363768
Early onset or syndromic epilepsy v2.320 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Early onset or syndromic epilepsy v1.191 IRF2BPL Rebecca Foulger Source Wessex and West Midlands GLH was added to IRF2BPL.
Early onset or syndromic epilepsy v1.190 IRF2BPL Rebecca Foulger Source NHS GMS was added to IRF2BPL.
Early onset or syndromic epilepsy v1.189 IRF2BPL Rebecca Foulger reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 IRF2BPL Tracy Lester reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.454 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Global developmental delay; Developmental regression; Seizures; Ataxia to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Marked gene: IRF2BPL as ready
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. More than 10 truncating variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Gene: irf2bpl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Classified gene: IRF2BPL as Green List (high evidence)
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Gene: irf2bpl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Early onset or syndromic epilepsy IRF2BPL Zornitza Stark edited their review of gene: IRF2BPL
Early onset or syndromic epilepsy IRF2BPL Zornitza Stark reviewed gene: IRF2BPL
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis Added gene to panel