SLC7A9

solute carrier family 7 member 9
OMIM: 604144, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green SLC7A9 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    Phenotypes
    • Cystinuria 220100
    Green SLC7A9 in Unexplained young onset end-stage renal disease


    Version 3.38
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Cystinuria 220100
    Green SLC7A9 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.613

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cystinuria (Disorders of amino acid transport)
    • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
    Green SLC7A9 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.131
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review 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)
    Red SLC7A9 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Tubulointerstitial disease
    • Cystinuria
    • MIM 220100
    Red SLC7A9 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green SLC7A9 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cystinuria, 220100