Hereditary pancreatitis: genes and variants
Hereditary pancreatitis is linked to 2 analyzed proteins (CFTR and SPG7). 8 DNA variants are known to cause it; 42 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hereditary pancreatitis
CFTR: Cystic fibrosis transmembrane conductance regulator
An epithelial chloride channel and regulator of salt and water movement across cell surfaces. Its activity helps keep airway, intestinal, and other epithelial fluids balanced, while CFTR disruption causes cystic fibrosis and related disorders.
7 disease-causing and 42 uncertain variants in CFTR are linked to Hereditary pancreatitis.
SPG7: Mitochondrial inner membrane m-AAA protease component paraplegin
It participates in mitochondrial inner-membrane protein quality control and respiratory homeostasis as part of the m-AAA protease machinery. Biallelic pathogenic variants cause SPG7-related disease, commonly presenting with spastic ataxia, optic neuropathy, or progressive gait impairment.
1 disease-causing and 0 uncertain variants in SPG7 are linked to Hereditary pancreatitis.
Where Hereditary pancreatitis variants cluster
- CFTR Cytoplasmic (positions 147–195): 3 of 7 disease-causing changes, 12.9× more than its size predicts.
Known disease-causing variants in Hereditary pancreatitis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CFTR G149R | 149 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR I105N | 105 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR I175V | 175 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR S589N | 589 | ABC transporter 1 | Disease-causing (★★) |
| CFTR P1021L | 1021 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| SPG7 G672R | 672 | Mitochondrial matrix | Disease-causing (★★) |
| CFTR G178R | 178 | ABC transmembrane type-1 1 | Disease-causing (★) |
| CFTR N1303Y | 1303 | ABC transporter 2 | Disease-causing (★) |
Which prediction tools work for Hereditary pancreatitis
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 95 out of 100
- CATVariant: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Cystic fibrosis is also caused by CFTR variants; they fall mostly in different places as the Hereditary pancreatitis variants (155 disease-causing).
- Bronchiectasis with or without elevated sweat chloride 1 is also caused by CFTR variants; they fall mostly in different places as the Hereditary pancreatitis variants (18 disease-causing).
- Congenital bilateral aplasia of vas deferens from CFTR mutation is also caused by CFTR variants; they fall mostly in different places as the Hereditary pancreatitis variants (10 disease-causing).
- Ivacaftor response - Efficacy is also caused by CFTR variants; they fall mostly in different places as the Hereditary pancreatitis variants (4 disease-causing).
- Hereditary spastic paraplegia is also caused by SPG7 variants; they fall mostly in different places as the Hereditary pancreatitis variants (26 disease-causing).
Diseases related to Hereditary pancreatitis
- Hereditary spastic paraplegia, also linked to SPG7
- Cystic fibrosis, also linked to CFTR
- Bronchiectasis with or without elevated sweat chloride 1, also linked to CFTR
- Congenital bilateral aplasia of vas deferens from CFTR mutation, also linked to CFTR
- Spastic ataxia, also linked to SPG7
- Mitochondrial disease, also linked to SPG7
- Possible mitochondrial disorder - nuclear genes, also linked to SPG7
- Mitochondrial DNA maintenance disorder, also linked to SPG7
- Ivacaftor response - Efficacy, also linked to CFTR
- Autosomal recessive spastic paraplegia type 78, also linked to SPG7
- Hereditary ataxia, also linked to SPG7
Frequently asked questions
Which genes are linked to Hereditary pancreatitis?
In CATVariant, Hereditary pancreatitis is linked to 2 analyzed proteins: CFTR (Cystic fibrosis transmembrane conductance regulator) and SPG7 (Mitochondrial inner membrane m-AAA protease component paraplegin).
How many genetic variants are linked to Hereditary pancreatitis?
50 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 42 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary pancreatitis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Hereditary pancreatitis?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.95, based on 8 disease-causing and 10 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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.
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