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Early onset or syndromic epilepsy v1.191 PTF1A Rebecca Foulger Source Wessex and West Midlands GLH was added to PTF1A.
Early onset or syndromic epilepsy v1.190 PTF1A Rebecca Foulger Source NHS GMS was added to PTF1A.
Early onset or syndromic epilepsy v1.189 PTF1A Rebecca Foulger edited their review of gene: PTF1A: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 PTF1A Tracy Lester reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 28663161; Phenotypes: Pancreatic agenesis 2, 615935, Pancreatic and cerebellar agenesis, 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger commented on gene: PTF1A: Added watchlist tag.
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger Tag watchlist tag was added to gene: PTF1A.
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger Classified gene: PTF1A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: Variants in PTF1A can cause Pancreatic agenesis 2, 615935 and Pancreatic and cerebellar agenesis, 609069. MIM:609069 can present with seizures, but hard to find individual cases in literature where epilepsy/seizures are recorded. Therefore Amber awaiting further cases.
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1583 PTF1A Rebecca Foulger Mode of inheritance for gene: PTF1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1581 PTF1A Rebecca Foulger Publications for gene: PTF1A were set to
Early onset or syndromic epilepsy v0.1580 PTF1A Rebecca Foulger Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, 609069
Early onset or syndromic epilepsy PTF1A Zornitza Stark reviewed gene: PTF1A
Early onset or syndromic epilepsy PTF1A Sarah Leigh Added gene to panel