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  2. Likely inborn error of metabolism
  3. SLC46A1
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Likely inborn error of metabolism

Gene: SLC46A1

Green List (high evidence)
SLC46A1 (solute carrier family 46 member 1)
EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 14 panels

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History Filter Activity

9 Oct 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC46A1 were changed from Folate malabsorption, hereditary; Hereditary folate malabsorption (Disorders of folate metabolism and transport) to Folate malabsorption, hereditary, OMIM:229050; Hereditary folate malabsorption (Disorders of folate metabolism and transport)

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC46A1. Source London North GLH was added to SLC46A1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC46A1 was added gene: SLC46A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 27604308 Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary; Hereditary folate malabsorption (Disorders of folate metabolism and transport)