1. Genes and Genomic Entities
  2. SLC12A5

SLC12A5

solute carrier family 12 member 5
OMIM: 606726, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SLC12A5 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • FEBRILE SEIZURES
    Green SLC12A5 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.177
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review
    Phenotypes
    • epilepsy of infancy with migrating focal seizures (EIMFS)
    • Epileptic encephalopathy, early infantile, 34, 616645
    • {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685
    Green SLC12A5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.375
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 34, OMIM
    • 616645