SPINK1

serine peptidase inhibitor, Kazal type 1
OMIM: 167790, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list SPINK1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pancreatitis, hereditary, 167800
  • {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189
  • Tropical calcific pancreatitis, 608189
Tags
  • curated_removed
Green SPINK1 in Pancreatitis


Version 3.4
Latest signed off version: v3.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • EUROPAC
Phenotypes
  • Pancreatitis, hereditary 167800