Likely inborn error of metabolism - targeted testing not possible
Gene: SLC7A9
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
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)
Gene: slc7a9 has been classified as Green List (High Evidence).
Publications for gene: SLC7A9 were set to 27604308; 24816252
Source NHS GMS was added to SLC7A9. Source London North GLH was added to SLC7A9.
Sarah Leigh: Associated with relevant pheno
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)