1. Genes and Genomic Entities
  2. SLC9A7

SLC9A7

solute carrier family 9 member A7
OMIM: 300368, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SLC9A7 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
Red SLC9A7 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual developmental disorder, X-linked 108, OMIM:301024
    Amber SLC9A7 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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
    • Intellectual developmental disorder, X-linked 108, MONDO:0026723
    Tags
    • watchlist