SLC10A2:Ensemblv90

solute carrier family 10 member 2
OMIM: 601295, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber SLC10A2 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.30

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid malabsorption, primary, MIM# 613291

Amber SLC10A2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid malabsorption, primary, MIM# 613291

Amber SLC10A2 in Haem degradation and bilirubin metabolism defects


Level 2: Metabolic disorders
Version 0.19

Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • bile acid malabsorption, primary, 1 MONDO:0013214
    • Disorders of bile acid metabolism

    Amber SLC10A2 in Congenital Diarrhoea


    Level 2: Gastroenterological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    Phenotypes
    • Bile acid malabsorption, primary, MIM# 613291

    Amber SLC10A2 in Haem degradation and bilirubin metabolism defects


    Level 2: Metabolic disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • bile acid malabsorption, primary, 1 MONDO:0013214
    • Disorders of bile acid metabolism