PCDHB4

protocadherin beta 4
OMIM: 606330, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red PCDHB4 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Literature
    Phenotypes
    • Intellectual disability, microcephaly and epilepsy