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Fetal anomalies

Gene: SLC19A1

Amber List (moderate evidence)
SLC19A1 (solute carrier family 19 member 1)
EnsemblGeneIds (GRCh38): ENSG00000173638
EnsemblGeneIds (GRCh37): ENSG00000173638
OMIM: 600424, Gene2Phenotype
SLC19A1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
PMID: 36745868 - 2 boys from the same family, homozygous for a missense variant had severe immunodeficiency and developmental delay, one had epilepsy. Brain imaging - extensive periventricular white matter hyperintensities and undeveloped myelinization reported in one boy and cerebral calcification at the bilateral caudate lobes, thalamus, basal ganglia, and right parietal and left frontotemporal lobes in the other boy. PMID: 36517554 - 2 boys from the same family with severe immunodeficiency and global developmental delay; brain imaging showed cerebral and cerebellar atrophy with delayed myelination. PMID: 11266438 - null mice died in utero. Partially reversible by folic acid supplementation. No prenatal findings reported to date.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 114, folate-responsive

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 114, folate-responsive
OMIM
600424
Clinvar variants
Variants in SLC19A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SLC19A1 was added gene: SLC19A1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A1 were set to 32276275; 36745868; 11266438; 36517554 Phenotypes for gene: SLC19A1 were set to Immunodeficiency 114, folate-responsive