PanelApp
  1. Genes and Genomic Entities
  2. EBF3

EBF3

early B-cell factor 3
OMIM: 607407, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red EBF3 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypotonia, ataxia and delayed development syndrome MIM#617330

Green EBF3 in Kabuki syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.16

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green EBF3 in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome, MIM# 617330

Green EBF3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome, MIM# 617330

Green EBF3 in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.60

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Hypotonia, ataxia and delayed development syndrome, 617330

    Green EBF3 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hypotonia, ataxia, and delayed development syndrome MONDO:0015021
    • Hypotonia, ataxia, and delayed development syndrome OMIM:617330

    Green EBF3 in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Hypotonia, ataxia, and delayed development syndrome, MIM# 617330