SLC32A1

solute carrier family 32 member 1
OMIM: 616440, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SLC32A1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755
  • Developmental and epileptic encephalopathy 114, MIM# 620774

Green SLC32A1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755
    • Developmental and epileptic encephalopathy 114, MIM# 620774

    Green SLC32A1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755
    • Developmental and epileptic encephalopathy 114, MIM# 620774