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Early onset or syndromic epilepsy v1.191 PSPH Rebecca Foulger Source Wessex and West Midlands GLH was added to PSPH.
Early onset or syndromic epilepsy v1.190 PSPH Rebecca Foulger Source NHS GMS was added to PSPH.
Early onset or syndromic epilepsy v1.189 PSPH Rebecca Foulger reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PSPH Tracy Lester reviewed gene: PSPH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Phosphoserine phosphatase deficiency, 614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Marked gene: PSPH as ready
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Added comment: Comment when marking as ready: Kept as Amber due to expert review.
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Gene: psph has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Tag watchlist tag was added to gene: PSPH.
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency 614023
Early onset or syndromic epilepsy v0.1578 PSPH Ellen McDonagh Publications for gene: PSPH were set to
Early onset or syndromic epilepsy v0.1577 PSPH Ellen McDonagh Mode of inheritance for gene: PSPH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy PSPH Zornitza Stark reviewed gene: PSPH
Early onset or syndromic epilepsy PSPH Sarah Leigh Added gene to panel