15 Jul 2020
Early onset or syndromic epilepsy v2.123
PTPN23
Eleanor Williams Added comment: Comment on phenotypes: Added disease association from OMIM.
15 Jul 2020
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
06 Aug 2019
Early onset or syndromic epilepsy v1.191
PTPN23
Rebecca Foulger Source Wessex and West Midlands GLH was added to PTPN23.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PTPN23
Rebecca Foulger Source NHS GMS was added to PTPN23.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PTPN23
Rebecca Foulger reviewed gene: PTPN23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
31 Jul 2018
Early onset or syndromic epilepsy
PTPN23
Sarah Leigh classified PTPN23 as Green List (high evidence)
31 Jul 2018
Early onset or syndromic epilepsy
PTPN23
Sarah Leigh marked gene: PTPN23 as ready
25 Jun 2018
Early onset or syndromic epilepsy
PTPN23
Sarah Leigh Added gene to panel