1. Genes and Genomic Entities
  2. NBEA

NBEA

neurobeachin
OMIM: 604889, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green NBEA in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Dense granule abnormality
Red NBEA in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red NBEA in Bleeding and platelet disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • North West GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Green NBEA in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • NBEA Neurodevelopment disorder with seizures
    Green NBEA in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

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

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • No OMIM number
    Green NBEA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • No OMIM number
    Green NBEA in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Seizures
    • Global developmental delay
    • Intellectual disability