SLC51B

SLC51 subunit beta
OMIM: 612085, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SLC51B in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

Component of the following Super Panels:

  • Liverome Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Bile acid malabsorption, primary, 2, MIM# 619481
    • Congenital diarrhoea
    • Cholestasis

    Red SLC51B in Congenital Diarrhoea


    Level 2: Gastroenterological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Bile acid malabsorption, primary, 2, MIM# 619481
    • Congenital diarrhoea
    • Cholestasis

    Red SLC51B in Mendeliome


    Version 2.22

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Bile acid malabsorption, primary, 2, MIM# 619481
    • Congenital diarrhoea
    • Cholestasis