SPINK1

serine peptidase inhibitor Kazal type 1
OMIM: 167790, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SPINK1 in Mendeliome


Version 2.50

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tropical calcific pancreatitis, MIM# 608189
  • Pancreatitis, hereditary, MIM# 167800

Green SPINK1 in Pancreatitis


Level 2: Gastroenterological disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tropical calcific pancreatitis, MIM# 608189
  • Pancreatitis, hereditary, MIM# 167800