Early onset or syndromic epilepsy
Gene: PTF1A
Insufficient evidence, phenotype appears to be associated with pancreatic agenesis.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069
Publications
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.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Added watchlist tag.Created: 11 Dec 2018, 4:01 p.m.
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.Created: 11 Dec 2018, 4 p.m.
Variants in this gene seem to cause either an isolated pancreatic phenotype or a combined pancreatic/neurological phenotype, and seizures are a feature of the latter.Created: 20 Aug 2018, 1:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic and cerebellar agenesis, MIM#609069
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to PTF1A.
Source NHS GMS was added to PTF1A.
Zornitza Stark: Variants in this gene seem to
Tag watchlist tag was added to gene: PTF1A.
Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: PTF1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTF1A were set to
Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, 609069
Expert Review Amber was added to PTF1A. Panel: Genetic Epilepsy Syndromes
PTF1A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PTF1A was created by Sarah Leigh