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  2. Likely inborn error of metabolism
  3. SLC3A1
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Likely inborn error of metabolism

Gene: SLC3A1

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

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. SLC3A1 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Created: 31 Oct 2019, 10:19 a.m. | Last Modified: 31 Oct 2019, 10:19 a.m.
Panel Version: 1.384

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Cystinuria, 220100

Publications

Created: 31 Oct 2019, 10:19 a.m.
Last Modified: 31 Oct 2019, 10:19 a.m.
Panel version: 1.384

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)

Created: 6 Jan 2017, 2:03 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
  • Cystinuria (Disorders of amino acid transport)
  • Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
OMIM
104614
Clinvar variants
Variants in SLC3A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: slc3a1 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC3A1. Source London North GLH was added to SLC3A1.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SLC3A1 was added gene: SLC3A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber 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 Phenotypes for gene: SLC3A1 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport); Hypotonia-cystinuria syndrome (Disorders of amino acid transport)