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 2.208
Latest signed off version: v2.2 (13 Feb 2020)

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 2.20
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green SLC10A7 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.127

    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