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Cerebral Palsy v1.95 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Cerebral Palsy v1.95 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Cerebral Palsy v1.95 IRF2BPL Zornitza Stark Classified gene: IRF2BPL as Green List (high evidence)
Cerebral Palsy v1.95 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Cerebral Palsy v1.86 IRF2BPL Luisa Weiss gene: IRF2BPL was added
gene: IRF2BPL was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF2BPL were set to 30057031; 30166628
Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MIM#618088
Review for gene: IRF2BPL was set to GREEN
Added comment: Two large IRF2BPL cohort studies, in one study (PMID:30166628) two children had previously been described with different forms of CP and later found to have a frameshift IRF2BPL mutation. In the other publication (PMID:3005703) there was significant phenotypic overlap with spasticity and non-progressive movemetn disorder, even though no formal CP diagnosis had been made.
Sources: Literature