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Multiple Tumours

Gene: SPINK1

Amber List (moderate evidence)
SPINK1 (serine peptidase inhibitor, Kazal type 1)
EnsemblGeneIds (GRCh38): ENSG00000164266
EnsemblGeneIds (GRCh37): ENSG00000164266
OMIM: 167790, Gene2Phenotype
SPINK1 is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

On the UKGTN Hereditary Cancers 82 Gene Panel for Familial Pancreatic Cancer.
Created: 18 Apr 2017, 1:52 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Pancreatitis, hereditary 167800; Tropical calcific pancreatitis 608189; {Fibrocalculous pancreatic diabetes, susceptibility to} 608189

Created: 18 Apr 2017, 1:52 p.m.

Panel version: 1.57

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Pancreatitis, hereditary 167800
  • Tropical calcific pancreatitis 608189
  • {Fibrocalculous pancreatic diabetes, susceptibility to} 608189
OMIM
167790
Clinvar variants
Variants in SPINK1
Penetrance
Complete
Panels with this gene

History Filter Activity

18 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

18 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SPINK1 was created by ellenmcdonagh

18 Apr 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SPINK1 was added to Multiple Tumourspanel. Sources: UKGTN