SLC7A5:Ensemblv90

solute carrier family 7 member 5
OMIM: 600182, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SLC7A5 in Mendeliome


Version 1.3802

1 review Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Large neutral amino acid transporter deficiency (MIM#600182)

Red SLC7A5 in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.138

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review Unknown
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Large neutral amino acid transporter deficiency (MIM#600182)

    Red SLC7A5 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

    1 review Unknown
    Sources
    • Other
    • Expert Review Red
    Phenotypes
    • Large neutral amino acid transporter deficiency (MIM#600182)