Cytopenia - NOT Fanconi anaemia
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: There is sufficient evidence to promote this gene to 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, 3:47 p.m. | Last Modified: 9 Oct 2025, 3:47 p.m.
Panel Version: 4.24
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 Amber
- Literature
- Expert Review
- Phenotypes
-
- Folate malabsorption, hereditary, OMIM:229050
- anemia
- pancytopenia
- Tags
- OMIM
- 611672
- Clinvar variants
- Variants in SLC46A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- 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 Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_25_promote_green tag was added to gene: SLC46A1. Tag Q3_25_NHS_review tag was added to gene: SLC46A1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: SLC46A1 was added gene: SLC46A1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert Review,Literature Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 21333572; 17446347; 29390264; 11804211; 17641272 Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, OMIM:229050; anemia; pancytopenia