Red cell disorders
Gene: SLC19A1
PMID: 36745868 report two distantly related patients (last common ancestor 5 generations prior) with the same homozygous missense variant, G348R. The variant is absent from gnomAD, although the residue is not conserved in mammals. Both patients experienced severe recurrent infection, neurologic and hematologic disorders, and gastroenteropathy. Functional studies on patient lymphocytes were consistent with reduced transporter activity.
PMID: 36517554 report two cousins with immunodeficiency with the same G348R variant as above. Functional studies on patient cells supported loss of transporter function. The patient’s symptoms ameliorated, and hematological and immunological tests normalized in the 2nd month of folinic acid supplementation.
Phenotypes not entirely consistent, homozygous variants.Created: 7 Dec 2023, 3:49 a.m. | Last Modified: 7 Dec 2023, 3:49 a.m.
Panel Version: 1.22
Single individual reported with in-frame deletion, some functional data.
Sources: Expert listCreated: 19 Apr 2021, 6:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia, folate-responsive, MIM# 601775
Publications
Publications for gene: SLC19A1 were set to 32276275
Gene: slc19a1 has been classified as Amber List (Moderate Evidence).
Gene: slc19a1 has been classified as Red List (Low Evidence).
gene: SLC19A1 was added gene: SLC19A1 was added to Rare anaemia_GEL. Sources: Expert list Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A1 were set to 32276275 Phenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775 Review for gene: SLC19A1 was set to RED