SLC3A1

solute carrier family 3 member 1
OMIM: 104614, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC3A1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystinuria, MIM# 220100

Green SLC3A1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cystinuria

Green SLC3A1 in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.128

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • cystinuria MONDO:0009067

    Red SLC3A1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Cystinuria, MIM# 220100
    Tags
    • for review
    • treatable
    • renal

    Green SLC3A1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cystinuria, MIM# 220100