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Early onset or syndromic epilepsy v1.191 PPT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to PPT1.
Early onset or syndromic epilepsy v1.190 PPT1 Rebecca Foulger Source NHS GMS was added to PPT1.
Early onset or syndromic epilepsy v1.189 PPT1 Rebecca Foulger reviewed gene: PPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PPT1 Tracy Lester reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11717424; Phenotypes: Ceroid lipofuscinosis neuronal, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1387 PPT1 Eleanor Williams Marked gene: PPT1 as ready
Early onset or syndromic epilepsy v0.1387 PPT1 Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases
Early onset or syndromic epilepsy v0.1387 PPT1 Eleanor Williams Gene: ppt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1387 PPT1 Eleanor Williams Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 256730
Early onset or syndromic epilepsy v0.1386 PPT1 Eleanor Williams Publications for gene: PPT1 were set to
Early onset or syndromic epilepsy v0.1385 PPT1 Eleanor Williams Mode of inheritance for gene: PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1384 PPT1 Eleanor Williams Classified gene: PPT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1384 PPT1 Eleanor Williams Added comment: Comment on list classification: Numerous variants and cases presenting with seizures.
Early onset or syndromic epilepsy v0.1384 PPT1 Eleanor Williams Gene: ppt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1383 PPT1 Eleanor Williams commented on gene: PPT1
Early onset or syndromic epilepsy PPT1 Zornitza Stark reviewed gene: PPT1
Early onset or syndromic epilepsy PPT1 Sarah Leigh Added gene to panel