SLC10A7

solute carrier family 10 member 7
OMIM: 611459, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SLC10A7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    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


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
    Green SLC10A7 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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
    Green SLC10A7 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363