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Cytopenias and congenital anaemias

Gene: SLC46A1

No list

SLC46A1 (solute carrier family 46 member 1)
EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 12 panels

1 review

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Hereditary folate malabsorption is an autosomal recessive disorder, shown to be due to loss-of-function mutations of the proton-coupled folate transporter (SLC46A1). Affected individuals present with early onset macrocytic anemia, thrombocytopenia, neutropenia, leukopenianand/or pancytopenia.
Sources: Expert Review, Literature
Created: 8 Jun 2019, 9:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Folate malabsorption; anemia; pancytopenia

Publications

History Filter Activity

8 Jun 2019, Gel status: 0

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

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

gene: SLC46A1 was added gene: SLC46A1 was added to Cytopenias and congenital anaemias. Sources: Expert Review,Literature Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to PMID: 21333572; 17446347; 29390264; 11804211; 17641272 Phenotypes for gene: SLC46A1 were set to Folate malabsorption; anemia; pancytopenia Review for gene: SLC46A1 was set to GREEN