SLC9A7

solute carrier family 9 member A7
OMIM: 300368, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SLC9A7 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, X-linked 108, OMIM #301024

    Amber SLC9A7 in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder, X-linked 108
    • OMIM #301024

    Amber SLC9A7 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, X-linked 108
    • OMIM #301024