Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: SPINK1

No list

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Remove gene from the panel.
Created: 19 Oct 2015, 8:17 a.m.

Sian Ellard (University of Exeter Medical School)

no evidence that mutation cause monogenic diabetes
Created: 18 Oct 2015, 8:22 a.m.

Details

Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pancreatitis, hereditary, 167800
  • {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189
  • Tropical calcific pancreatitis, 608189
OMIM
167790
Clinvar variants
Variants in SPINK1
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

7 Jun 2016, Gel status: 0

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been removed from the panel.

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SPINK1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen