PanelApp
  1. Genes and Genomic Entities
  2. SLC10A7

SLC10A7

solute carrier family 10 member 7
OMIM: 611459, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SLC10A7 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.239

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363

Green SLC10A7 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.78

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363

    Green SLC10A7 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363

    Green SLC10A7 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • skeletal dysplasia and amelogenesis imperfecta
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363

    Green SLC10A7 in Multiple joint dislocations and laxity

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.9

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363
    • skeletal dysplasia and amelogenesis imperfecta

    Green SLC10A7 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.12

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363)

    Green SLC10A7 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363