SLC32A1

solute carrier family 32 member 1
OMIM: 616440, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SLC32A1 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 114, OMIM:620774
    Green SLC32A1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 114, OMIM:620774
    • Generalized epilepsy with febrile seizures plus, type 12, OMIM:620755
    Green SLC32A1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.10
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 114, OMIM:620774