Early onset or syndromic epilepsy

Gene: PTF1A

I don't know

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

• 28663161

I don't know

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.

I don't know

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

• 21749365
• 15543146
• 19650412

Variants in this GENE are reported as part of current diagnostic practice