CPLX1

complexin 1
OMIM: 605032, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CPLX1 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green CPLX1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.126
    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
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 63, OMIM:617976
    • developmental and epileptic encephalopathy, 63, MONDO:0033372
    Green CPLX1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.288
    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
    • NHS GMS
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 63, OMIM:617976
    • developmental and epileptic encephalopathy, 63, MONDO:0033372