|
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
|