PanelApp (test)
  1. Genes and Genomic Entities
  2. SLC27A5

SLC27A5

solute carrier family 27 member 5
OMIM: 603314, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red SLC27A5 in Cholestasis


Level 2: Gastroenterological disorders
Version 0.240

Component of the following Super Panels:

  • Liverome Superpanel

    		•  review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Disorder of bile acid metabolism

    Red SLC27A5 in Mendeliome


    Version 1.1902

    		review Unknown
    Sources
    • Expert Review Red
    • Literature
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services

    Red SLC27A5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Bile acid amidation defect

    Red SLC27A5 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Bile acid-CoA ligase deficiency
    • Disorders of bile acid biosynthesis

    Red SLC27A5 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Bile acid amidation defect