SLC13A1

solute carrier family 13 member 1
OMIM: 606193, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SLC13A1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
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 Green
    • NHS GMS
    • Literature
    Phenotypes
    • impaired sulfate transport and skeletal dysplasia
    Tags
    • gene-checked
    Amber SLC13A1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • short stature, scoliosis, and skeletal dysplasia
    Green SLC13A1 in DDG2P


    Version 6.447
    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
    Tags
    • gene-checked
    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