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Prepair 1000+

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 13 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.

Childhood onset, metabolic disorder. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits.
Created: 30 Jul 2024, 7:26 a.m. | Last Modified: 30 Jul 2024, 7:26 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Folate malabsorption, hereditary, MIM# 229050

Publications

History Filter Activity

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: slc46a1 has been classified as Green List (High Evidence).

13 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SLC46A1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Folate malabsorption, hereditary, 229050 (3) for gene: SLC46A1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC46A1 was added gene: SLC46A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)