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Mendeliome

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 3 panels

2 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

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.
Created: 7 Dec 2023, 1:55 a.m. | Last Modified: 7 Dec 2023, 1:55 a.m.
Panel Version: 1.1402

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency, SLC19A1-related MONDO:0015131

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with in-frame deletion, some functional data.
Sources: Expert list
Created: 19 Apr 2021, 6:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megaloblastic anemia, folate-responsive, MIM# 601775

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Megaloblastic anemia, folate-responsive, MIM# 601775
  • Combined immunodeficiency, SLC19A1-related MONDO:0015131
OMIM
600424
Clinvar variants
Variants in SLC19A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC19A1 were changed from Megaloblastic anemia, folate-responsive, MIM# 601775 to Megaloblastic anemia, folate-responsive, MIM# 601775; Combined immunodeficiency, SLC19A1-related MONDO:0015131

7 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: slc19a1 has been classified as Amber List (Moderate Evidence).

19 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc19a1 has been classified as Red List (Low Evidence).

19 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC19A1 was added gene: SLC19A1 was added to Mendeliome. 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