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Early onset or syndromic epilepsy v2.123 PTPN23 Eleanor Williams Added comment: Comment on phenotypes: Added disease association from OMIM.
Early onset or syndromic epilepsy v2.123 PTPN23 Eleanor Williams Phenotypes for gene: PTPN23 were changed from Rare severe autosomal-recessive developmental and epileptic encephalopathy to Rare severe autosomal-recessive developmental and epileptic encephalopathy; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
Early onset or syndromic epilepsy v1.191 PTPN23 Rebecca Foulger Source Wessex and West Midlands GLH was added to PTPN23.
Early onset or syndromic epilepsy v1.190 PTPN23 Rebecca Foulger Source NHS GMS was added to PTPN23.
Early onset or syndromic epilepsy v1.189 PTPN23 Rebecca Foulger reviewed gene: PTPN23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PTPN23 Tracy Lester reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: ; Publications: 29090338; Phenotypes: epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy PTPN23 Sarah Leigh classified PTPN23 as Green List (high evidence)
Early onset or syndromic epilepsy PTPN23 Sarah Leigh marked gene: PTPN23 as ready
Early onset or syndromic epilepsy PTPN23 Sarah Leigh Added gene to panel