PLXNB3

plexin B3
OMIM: 300214, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PLXNB3 in Fetal anomalies


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • congenital heart disease with neurodevelopmental disabilities
Red PLXNB3 in Intellectual disability


Level 2: Developmental disorders
Version 9.345
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red