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  3. SLC3A1
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TEST Undiagnosed metabolic disorders

Gene: SLC3A1

Amber List (moderate evidence)
SLC3A1 (solute carrier family 3 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138079
EnsemblGeneIds (GRCh37): ENSG00000138079
OMIM: 104614, Gene2Phenotype
SLC3A1 is in 4 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
OMIM
104614
Clinvar variants
Variants in SLC3A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: SLC3A1 was added gene: SLC3A1 was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Amber,Literature Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC3A1 were set to 27604308