NBEA

neurobeachin
OMIM: 604889, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NBEA in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157
  • Intellectual disability
  • Seizures

Green NBEA 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
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157
    • Intellectual disability
    • Seizures

    Green NBEA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157
    • Intellectual disability
    • Seizures

    Amber NBEA in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157
    • Paroxysmal Kinesigenic Dyskinesia
    • DEE
    • autism
    • intellectual disability