SLC19A1

solute carrier family 19 member 1
OMIM: 600424, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red SLC19A1 in Rare anaemia


Level 2: Haematology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Megaloblastic anemia, folate-responsive, OMIM:601775
Amber SLC19A1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 114, folate-responsive