Pancreatic Agenesis 2; Pagen2

Clinical Features

Phenotypes and symptoms related to Pancreatic Agenesis 2; Pagen2

  • Global developmental delay
  • Diabetes mellitus
  • Small for gestational age
  • Hepatic failure
  • Type I diabetes mellitus
  • Steatorrhea
  • Pancreatic hypoplasia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pancreatic Agenesis 2; Pagen2 Is also known as pancreatic hypoplasia, congenital 2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pancreatic Agenesis 2; Pagen2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
PTF1A deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

PTF1A
Specificity
100 %
Genes
100 %
PTF1A sequencing.

By Genetic Services Laboratory University of Chicago (United States).

PTF1A
Specificity
100 %
Genes
100 %
Pancreatic agenesis 2 (sequence analysis of PTF1A gene).

By CGC Genetics (Portugal).

PTF1A
Specificity
100 %
Genes
100 %
Diabetes mellitus permanent neonatal (NGS panel for 13 genes).

By CGC Genetics (Portugal).

SLC19A2, HNF1B, IER3IP1, RFX6, PTF1A, GLIS3, GATA6, GCK, ABCC8, INS, PDX1, KCNJ11, PAX6
Specificity
8 %
Genes
100 %
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis.

By Exeter Molecular Genetics Laboratory (United Kingdom).

PTF1A
Specificity
100 %
Genes
100 %

You can get up to 23 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

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