1. Genes and Genomic Entities
  2. EPB41L3

EPB41L3

erythrocyte membrane protein band 4.1 like 3
OMIM: 605331, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber EPB41L3 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental disorder with seizures and myelination defects
    Tags
    • Q2_25_ promote_green
    • Q2_25_ NHS_review
    Green EPB41L3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPB41L3-related developmental disorder with delayed myelination and seizures
    Tags
    • gene-checked
    Amber EPB41L3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental disorder with seizures and myelination defects
    Tags
    • Q2_25_ promote_green
    • Q2_25_ NHS_review
    Amber EPB41L3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental disorder with seizures and myelination defects
    Tags
    • Q2_25_ promote_green
    • Q2_25_ NHS_review