1. Genes and Genomic Entities
  2. EN1

EN1

engrailed homeobox 1
OMIM: 131290, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber EN1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • ENDOVE syndrome, limb-only type, MIM# 619217
    • ENDOVE syndrome, limb-brain type, MIM# 619218
    Tags
    • watchlist
    Amber EN1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ENDOVE syndrome, limb-only type, MIM# 619217
    • ENDOVE syndrome, limb-brain type, MIM# 619218
    Tags
    • watchlist
    Green EN1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • ENDOVE syndrome, limb-brain type, OMIM:619218