PanelApp (staging)
  1. Genes and Genomic Entities
  2. EPB41L3

EPB41L3

erythrocyte membrane protein band 4.1 like 3
OMIM: 605331, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EPB41L3 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063

Green EPB41L3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063

    Green EPB41L3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063