1. Panels
  2. Pancreatitis
The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Pancreatitis (Version 3.5)

Level 2: Gastrohepatology

Relevant disorders: R175
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (30 Nov 2022)
Previously signed off versions: v2.2
Description
This panel is used for clinical indication 'R175 Pancreatitis' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R175 Pancreatitis'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project.  For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K
Panel Activity

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Miranda Durkie (Genetics)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ioannis Sarantitis (EUROPAC)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

18 Entities

18 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
18 Entitiess
Green List (high evidence)
CELA3B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Chronic Pancreatitis, MONDO:0005003
  • diabetes mellitus (disease), MONDO:0005015
  • Pancreatic cancer
Tags
  • gene-checked
Green List (high evidence)
CFTR
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • EUROPAC
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Pancreatitis, hereditary} 167800
  • Cystic fibrosis 219700
Tags
Green List (high evidence)
PRSS1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • EUROPAC
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pancreatitis, hereditary 167800
Tags
  • cnv
Green List (high evidence)
SPINK1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • EUROPAC
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pancreatitis, hereditary 167800
Tags
Amber List (moderate evidence)
CEL
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • EUROPAC
  • Expert Review Amber
Phenotypes
  • Hereditary Pancreatitis
Tags
Amber List (moderate evidence)
CPA1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • EUROPAC
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Chronic pancreatitis
  • Hereditary chronic pancreatitis
Tags
  • watchlist
Amber List (moderate evidence)
CTRC
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • EUROPAC
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • {Pancreatitis, chronic, susceptibility to} 167800
Tags
Amber List (moderate evidence)
KRT8
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber List (moderate evidence)
TRPV6
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Chronic pancreatitis
Tags
Red List (low evidence)
CASR
3 reviews
1 red 		Not set
Sources
  • EUROPAC
  • NHS GMS
Phenotypes
  • Pancreatitis
Tags
Red List (low evidence)
CCL2
1 review
1 red 		Not set
Sources
  • EUROPAC
Tags
Red List (low evidence)
CLDN2
1 review
1 red 		Not set
Sources
  • EUROPAC
Tags
Red List (low evidence)
CTRB1
1 review
1 red 		Not set
Sources
  • EUROPAC
Tags
Red List (low evidence)
CTRB2
1 review
1 red 		Not set
Sources
  • EUROPAC
Phenotypes
  • risk factor for alcoholic and non-alcoholic chronic pancreatitis
Tags
Red List (low evidence)
CTSB
2 reviews
1 red 		Not set
Sources
  • EUROPAC
  • NHS GMS
Tags
Red List (low evidence)
CXCL8
1 review
1 red 		Not set
Sources
  • EUROPAC
Tags
Red List (low evidence)
MORC4
1 review
1 red 		Unknown
Sources
  • Literature
Tags
Red List (low evidence)
PRSS2
3 reviews
1 red 		Not set
Sources
  • EUROPAC
  • NHS GMS
Phenotypes
  • {Pancreatitis, chronic, protection against} 167800
Tags
  • ensembl_ids_known_missing

Major version comments

  • 2022-11-30 14:52 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

    2019-09-04 09:45 Ivone Leong (Genomics England Curator) promoted panel to 2.0
    The content of this panel (version 1.12) was signed off under NHS Genomic Medicine Service governance on (04/09/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

    2018-12-10 14:16 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
    Panel reviewed by external expert, revised taking into consideration further curation, reviews and clinical input from the Genomics England Clinical Team. Ready to promote to version 1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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