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 2.5
Signed off v.2.2 on 13 Feb 2020

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.66
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Mental retardation, autosomal dominant 11 614257
    Tags
    • watchlist