SLC7A2

solute carrier family 7 member 2
OMIM: 601872, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SLC7A2 in Mendeliome


Version 1.3486

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, SLC7A2-related
Tags
  • founder

Amber SLC7A2 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.590

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, SLC7A2-related
Tags
  • founder

Amber SLC7A2 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.333

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, MONDO:0019046, SLC7A2-related
    Tags
    • founder