SLC10A7

solute carrier family 10 member 7
OMIM: 611459, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SLC10A7 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 Green
    • Literature
    Phenotypes
    • skeletal dysplasia and amelogenesis imperfecta
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363
    Green SLC10A7 in Amelogenesis imperfecta


    Level 2: Musculoskeletal
    Version 4.30
    Latest signed off version: v4.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • skeletal dysplasia and amelogenesis imperfecta
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363
    • short stature
    • amelogenesis imperfect hypo mineralised
    • skeletal dysplasia
    • scoliosis
    Green SLC10A7 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
    Green SLC10A7 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Chondrodysplasia with multiple dislocations and amelogenesis imperfecta