SLC19A1

solute carrier family 19 member 1
OMIM: 600424, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SLC19A1 in Mendeliome


Version 2.0

2 reviews 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 2.0

1 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 2.0

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