SPTBN1

spectrin beta, non-erythrocytic 1
OMIM: 182790, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SPTBN1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475
  • Neurodevelopmental Syndrome
  • Intellectual disability
  • Seizures

Green SPTBN1 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, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475

    Green SPTBN1 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
    • Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475