SLC3A1

solute carrier family 3 member 1
OMIM: 104614, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SLC3A1 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.24
Latest signed off version: v2.2 (13 Feb 2020)

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 SLC3A1 in Unexplained paediatric onset end-stage renal disease


    Version 1.23
    Latest signed off version: v1.2 (4 Mar 2020)

    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 SLC3A1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.488

    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)
    • Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
    • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)

    Green SLC3A1 in Inborn errors of metabolism


    Version 2.190
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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)
    • Hypotonia-cystinuria syndrome (Disorders of amino acid transport)

    Amber SLC3A1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Exper review amber
    • Literature
    Phenotypes
    • Tubulointerstitial disease
    • Congenital or cystic renal disease
    • Hypertensive nephropathy
    • Cystinuria
    • MIM 220100

    Red SLC3A1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.166
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC3A1 in Severe Paediatric Disorders


    Version 1.84

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