SLC19A1

solute carrier family 19 member 1
OMIM: 600424, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SLC19A1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Megaloblastic anemia, folate-responsive, MIM# 601775
  • Combined immunodeficiency, SLC19A1-related MONDO:0015131

Amber SLC19A1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Combined immunodeficiency, SLC19A1-related MONDO:0015131

    Amber SLC19A1 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.24

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Megaloblastic anemia, folate-responsive, MIM# 601775