1. Genes and Genomic Entities
  2. EPB41L1

EPB41L1

erythrocyte membrane protein band 4.1 like 1
OMIM: 602879, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red EPB41L1 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • INTELLECTUAL DISABILITY
    Amber EPB41L1 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Mental retardation, autosomal dominant 11 614257
    Tags
    • watchlist