1. Genes and Genomic Entities
  2. EBF3

EBF3

early B-cell factor 3
OMIM: 607407, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green EBF3 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.23
Latest signed off version: v9.22 (12 Aug 2026)

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


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		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 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  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