SPINK1:Ensemblv90

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SPINK1 in Mendeliome


Version 1.3802

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 1.6

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

Red SPINK1 in NCGC


Version 0.3

0 reviews Other
Sources
  • NCGC
Phenotypes
  • NA

Green SPINK1 in Pancreatitis


Level 2: Gastroenterological disorders
Version 2.0

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