Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: SPINK1
SPINK1 (serine peptidase inhibitor, Kazal type 1)
EnsemblGeneIds (GRCh38): ENSG00000164266
EnsemblGeneIds (GRCh37): ENSG00000164266
OMIM: 167790, Gene2Phenotype
SPINK1 is in 2 panels
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 diabetesCreated: 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
- Tags
- OMIM
- 167790
- Clinvar variants
- Variants in SPINK1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SPINK1.
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