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'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local 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

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • 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

16 Entities

15 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
16 Entitiess
Green 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 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 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 Amber List (moderate evidence)
CPA1
3 reviews
1 green
Not set
Sources
  • EUROPAC
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Chronic pancreatitis
  • Hereditary chronic pancreatitis
Tags
  • watchlist
Amber 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
Red Red List (low evidence)
CASR
2 reviews
1 red
Not set
Sources
  • EUROPAC
  • NHS GMS
Tags
Red Red List (low evidence)
CCL2
1 review
1 red
Not set
Sources
  • EUROPAC
Tags
Red Red List (low evidence)
CEL
1 review
1 red
Not set
Sources
  • EUROPAC
Tags
Red Red List (low evidence)
CLDN2
1 review
1 red
Not set
Sources
  • EUROPAC
Tags
Red Red List (low evidence)
CTRB1
1 review
1 red
Not set
Sources
  • EUROPAC
Tags
Red 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 Red List (low evidence)
CTSB
2 reviews
1 red
Not set
Sources
  • EUROPAC
  • NHS GMS
Tags
Red Red List (low evidence)
CXCL8
1 review
1 red
Not set
Sources
  • EUROPAC
Tags
Red Red List (low evidence)
KRT8
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
MORC4
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
PRSS2
2 reviews
1 red
Not set
Sources
  • EUROPAC
  • NHS GMS
Phenotypes
  • {Pancreatitis, chronic, protection against} 167800
Tags

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