PTF1A Chromosome 10
Pancreas associated transcription factor 1a
Upload your DNA to see your personal genotypes for variants in PTF1A.
What This Gene Does
This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|PTF1 complex"
Locus Type
gene with protein product
Location
10p12.2
Ensembl
ENSG00000168267
Associated Conditions (9)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Neonatal insulin-dependent diabetes mellitus
Pancreatic agenesis 2
Monogenic diabetes
Permanent neonatal diabetes mellitus
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Maturity-onset diabetes of the young
Kallikrein
decreased urinary activity of
Key Variants
RS1056021170
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS117678424
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Neonatal insulin-dependent diabetes mellitus, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS140097468
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS535090775
Conflicting classifications of pathogenicity
Monogenic diabetes, Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS539214102
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS565666569
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS7918487
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2
Health Risk
RS886046910
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS2131680472
Likely pathogenic
Health Risk
RS104894186
Pathogenic
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS2492671663
Pathogenic
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Health Risk
RS868849369
Pathogenic
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1056021170 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS117678424 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Neonatal insulin-dependent diabetes mellitus, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS140097468 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS535090775 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS539214102 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS565666569 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS7918487 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2 |
| RS886046910 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS2131680472 | Health Risk | Likely pathogenic | — |
| RS104894186 | Health Risk | Pathogenic | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS2492671663 | Health Risk | Pathogenic | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS868849369 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS886039746 | Health Risk | Pathogenic | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| RS1588563037 | Health Risk | Pathogenic/Likely pathogenic | Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Kallikrein |