Pancreatic hypoplasia - diabetes - congenital heart disease: genes and variants
Explore variant evidence for Pancreatic hypoplasia - diabetes - congenital heart disease across 2 analyzed proteins (GATA6, ACADVL). Linked ClinVar records include 8 pathogenic or likely pathogenic variants, 6 variants of uncertain significance and 2 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Pancreatic hypoplasia - diabetes - congenital heart disease
GATA6: Transcription factor GATA-6
It regulates developmental programs in the pancreas, heart, gut, and other endoderm-derived tissues. Haploinsufficiency is a major cause of pancreatic agenesis and neonatal diabetes and can also produce congenital heart disease and other developmental abnormalities.
7 ClinVar pathogenic / likely pathogenic and 8 uncertain variants in GATA6 have source records linked to Pancreatic hypoplasia - diabetes - congenital heart disease. Association strength is not clinical gene validity.
ACADVL: Very long-chain acyl-CoA dehydrogenase, mitochondrial
It catalyzes the first dehydrogenation step in mitochondrial beta-oxidation of long-chain fatty acids, especially during fasting and sustained energy demand. Biallelic loss of function causes very-long-chain acyl-CoA dehydrogenase deficiency, ranging from severe cardiomyopathy to exercise-induced rhabdomyolysis.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ACADVL have source records linked to Pancreatic hypoplasia - diabetes - congenital heart disease. Association strength is not clinical gene validity.
Where Pancreatic hypoplasia - diabetes - congenital heart disease variants cluster
- GATA6 GATA-type 2 (positions 444–468): 6 of 7 ClinVar pathogenic / likely pathogenic variants, 20.4× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Pancreatic hypoplasia - diabetes - congenital heart disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA6 R456C | 456 | GATA-type 2 | Pathogenic / likely pathogenic (★★) |
| GATA6 R456H | 456 | GATA-type 2 | Pathogenic / likely pathogenic (★★) |
| ACADVL S21N | 21 | Pathogenic / likely pathogenic (★★) | |
| GATA6 R456L | 456 | GATA-type 2 | Pathogenic / likely pathogenic (★) |
| GATA6 T453N | 453 | GATA-type 2 | Pathogenic / likely pathogenic (★) |
| GATA6 S294R | 294 | Pathogenic / likely pathogenic (★) | |
| GATA6 T452A | 452 | GATA-type 2 | Pathogenic / likely pathogenic |
| GATA6 N466D | 466 | GATA-type 2 | Pathogenic / likely pathogenic |
Same protein, different disease
- Very long chain acyl-CoA dehydrogenase deficiency also has ClinVar records linked to ACADVL variants; they fall mostly in different places as the Pancreatic hypoplasia - diabetes - congenital heart disease variants (149 pathogenic / likely pathogenic).
Diseases related to Pancreatic hypoplasia - diabetes - congenital heart disease
- Monogenic diabetes, also linked to GATA6
- Very long chain acyl-CoA dehydrogenase deficiency, also linked to ACADVL
- Atrial septal defect, also linked to GATA6
- Atrioventricular septal defect 4, also linked to GATA6
Frequently asked questions
Which genes have records linked to Pancreatic hypoplasia - diabetes - congenital heart disease?
This view contains 2 analyzed proteins: GATA6, ACADVL. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 8 pathogenic or likely pathogenic variants, 6 variants of uncertain significance and 2 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 27 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center