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  2. Likely inborn error of metabolism
  3. SLC7A9
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Likely inborn error of metabolism

Gene: SLC7A9

Green List (high evidence)
SLC7A9 (solute carrier family 7 member 9)
EnsemblGeneIds (GRCh38): ENSG00000021488
EnsemblGeneIds (GRCh37): ENSG00000021488
OMIM: 604144, Gene2Phenotype
SLC7A9 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.

Comment on list classification: Promoted from Amber to Green. SLC7A9 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: 30 Oct 2019, 10:55 a.m. | Last Modified: 30 Oct 2019, 10:55 a.m.
Panel Version: 1.379

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

Phenotypes
Cystinuria, 220100

Publications

Created: 30 Oct 2019, 10:55 a.m.
Last Modified: 30 Oct 2019, 10:55 a.m.
Panel version: 1.379

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)
OMIM
604144
Clinvar variants
Variants in SLC7A9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: slc7a9 has been classified as Green List (High Evidence).

30 Oct 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: SLC7A9 were set to 27604308; 24816252

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC7A9. Source London North GLH was added to SLC7A9.

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: SLC7A9 was added gene: SLC7A9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC7A9 were set to 27604308; 24816252 Phenotypes for gene: SLC7A9 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport)