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Early onset or syndromic epilepsy v1.191 PHGDH Rebecca Foulger Source Wessex and West Midlands GLH was added to PHGDH.
Early onset or syndromic epilepsy v1.190 PHGDH Rebecca Foulger Source NHS GMS was added to PHGDH.
Early onset or syndromic epilepsy v1.189 PHGDH Rebecca Foulger reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PHGDH Tracy Lester reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 11751922; Phenotypes: Neu-Laxova syndrome, 256520, Phosphoglycerate dehydrogenase deficiency, 601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1021 PHGDH Eleanor Williams Marked gene: PHGDH as ready
Early onset or syndromic epilepsy v0.1021 PHGDH Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases reported with seizures.
Early onset or syndromic epilepsy v0.1021 PHGDH Eleanor Williams Gene: phgdh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1021 PHGDH Eleanor Williams Phenotypes for gene: PHGDH were changed from to Phosphoglycerate dehydrogenase deficiency 601815
Early onset or syndromic epilepsy v0.1020 PHGDH Eleanor Williams Publications for gene: PHGDH were set to
Early onset or syndromic epilepsy v0.1019 PHGDH Eleanor Williams Mode of inheritance for gene: PHGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1018 PHGDH Eleanor Williams Classified gene: PHGDH as Green List (high evidence)
Early onset or syndromic epilepsy v0.1018 PHGDH Eleanor Williams Added comment: Comment on list classification: More than 3 variants associated with the disorder. Patients from 7 families present with seizures.
Early onset or syndromic epilepsy v0.1018 PHGDH Eleanor Williams Gene: phgdh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1017 PHGDH Eleanor Williams commented on gene: PHGDH
Early onset or syndromic epilepsy PHGDH Zornitza Stark reviewed gene: PHGDH
Early onset or syndromic epilepsy PHGDH Sarah Leigh Added gene to panel