PNPLA3

patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase
OMIM: 609567, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red PNPLA3 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Metabolic dysfunction-associated steatotic liver disease MONDO:0013209, PNPLA3-related