SLC13A1

solute carrier family 13 member 1
OMIM: 606193, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SLC13A1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • impaired sulfate transport and skeletal dysplasia
    Tags
    • gene-checked
    • Q1_25_ promote_green
    Green SLC13A1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SLC13A1-associated hypersulfaturia and hyposulfatemia
    Green SLC13A1 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • impaired sulfate transport and skeletal dysplasia
    Tags
    • gene-checked