1. Genes and Genomic Entities
  2. EBF3

EBF3

early B-cell factor 3
OMIM: 607407, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green EBF3 in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
    • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
    Green EBF3 in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
    • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
    Green EBF3 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
    • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
    Green EBF3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
    • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
    Amber EBF3 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
    • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
    Green EBF3 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
    • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
    • hypotonia, ataxia, and delayed development syndrome MONDO:0015021