PTF1A
Chr 10ARpancreas associated transcription factor 1a
Also known as: PACA, PAGEN2, PTF1-p48, bHLHa29, p48
This gene encodes a transcription factor that binds E-box sequences and is essential for pancreatic development, determining cell fate in pancreatic buds and maintaining exocrine pancreas gene expression, while also playing important roles in cerebellar and retinal development. Mutations cause autosomal recessive pancreatic agenesis with or without cerebellar agenesis, representing severe developmental disorders affecting multiple organ systems. The gene has moderate constraint against loss-of-function variants and is associated with early developmental phenotypes.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
186 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 0 | 10 | 0 | 13 |
Likely Pathogenic | 1 | 1 | 1 | 0 | 3 |
VUS | 3 | 72 | 9 | 0 | 84 |
Likely Benign | 0 | 5 | 1 | 50 | 56 |
Benign | 0 | 0 | 19 | 1 | 20 |
Conflicting | — | 8 | |||
| Total | 7 | 78 | 40 | 51 | 184 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PTF1A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools