ABCC2

ATP binding cassette subfamily C member 2
OMIM: 601107, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ABCC2 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Dubin-Johnson syndrome, 237500
  • Cholestasis
  • intrahepatic cholestasis of pregnancy
  • modifier in biliary atresia
  • Dubin Johnson syndrome
Green ABCC2 in Cholestasis


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • modifier in biliary atresia
  • Dubin Johnson syndrome
  • Cholestasis
  • intrahepatic cholestasis of pregnancy
  • Dubin-Johnson syndrome, 237500
Green ABCC2 in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Dubin-Johnson syndrome, 237500