Cytopenias and congenital anaemias
Gene: SLC46A1EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 14 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added as Green. At least 5 unrelated individuals with biallelic variants in this gene and hereditary folate malabsorption which can progress to severe pancytopenia (PMID: 11807405; 17446347; 21333572; 40937236). This is a key feature of this condition and warrants inclusion on the panel.Created: 9 Oct 2025, 3:48 p.m. | Last Modified: 9 Oct 2025, 3:48 p.m.
Panel Version: 1.120
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)
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, LiteratureCreated: 8 Jun 2019, 9:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Folate malabsorption; anemia; pancytopenia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Folate malabsorption, hereditary, OMIM:229050
- anemia
- pancytopenia
- OMIM
- 611672
- Clinvar variants
- Variants in SLC46A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset dystonia
- DDG2P
- Cerebral folate deficiency
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc46a1 has been classified as Green List (High Evidence).
Set Phenotypes, Set publications
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC46A1 were changed from Folate malabsorption; anemia; pancytopenia to Folate malabsorption, hereditary, OMIM:229050; anemia; pancytopenia Publications for gene: SLC46A1 were updated from PMID: 21333572; 17446347; 29390264; 11804211; 17641272 to 21333572; 17446347; 29390264; 11804211; 17641272
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