EML1

echinoderm microtubule associated protein like 1
OMIM: 602033, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green EML1 in Hydrocephalus


Level 2: Neurology
Version 5.12
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Band heterotopia, OMIM:600348
Green EML1 in Malformations of cortical development


Level 2: Neurology
Version 7.39
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Band heterotopia, OMIM:600348
    Green EML1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Band heterotopia, OMIM:600348
    Green EML1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.166
    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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Literature
    • Expert Review Green
    Phenotypes
    • Band heterotopia, OMIM:600348
    Green EML1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.343
    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 Green
    • Literature
    Phenotypes
    • Band heterotopia, OMIM:600348