Description
This panel was developed and is maintained by VCGS and contains genes associated with hereditary pancreatitis. The aetiology of recurrent acute and chronic pancreatitis is often multifactorial, and common variants in several genes have been implicated in susceptibility.

This panel has been compared against the Genomics England PanelApp 'Pancreatitis' panel, with all differences resolved and reciprocal feedback provided to Genomics England.

2 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

9 Entities

9 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
9 Entitiess
Green Green List (high evidence)
CFTR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cystic fibrosis
Tags
Green Green List (high evidence)
CPA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Hereditary pancreatitis, MONDO:0008185, CPA1-related
Tags
Green Green List (high evidence)
PRSS1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Pancreatitis, hereditary, MIM# 167800
Tags
Green Green List (high evidence)
SPINK1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Tropical calcific pancreatitis, MIM# 608189
  • Pancreatitis, hereditary, MIM# 167800
Tags
Green Green List (high evidence)
TRPV6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Early onset chronic pancreatitis susceptibility
Tags
Amber Amber List (moderate evidence)
CASR
1 review
Other
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Susceptibility to pancreatitis
Tags
Amber Amber List (moderate evidence)
CELA3B
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Chronic pancreatitis
Tags
Amber Amber List (moderate evidence)
CTRC
1 review
Other
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • {Pancreatitis, chronic, susceptibility to}, MIM#167800
Tags
Red Red List (low evidence)
CLDN2
1 review
1 red
Other
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Susceptibility to pancreatitis
Tags

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