1. Genes and Genomic Entities
  2. PLXNB2

PLXNB2

plexin B2
OMIM: 604293, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PLXNB2 in Amelogenesis imperfecta


Level 2: Musculoskeletal
Version 4.38
Latest signed off version: v4.37 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • amelogenesis imperfecta, MONDO:0019507
  • sensorineural hearing loss disorder, MONDO:0020678
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
Amber PLXNB2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • amelogenesis imperfecta, hearing loss and intellectual disability
Green PLXNB2 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability
    Tags
    • gene-checked
    Green PLXNB2 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.42
    Latest signed off version: v6.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • amelogenesis imperfecta, MONDO:0019507
    • sensorineural hearing loss disorder, MONDO:0020678
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked
    Green PLXNB2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • amelogenesis imperfecta, MONDO:0019507
    • sensorineural hearing loss disorder, MONDO:0020678
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked
    Amber PLXNB2 in Primary lymphoedema


    Level 2: Cardiology
    Version 5.7
    Latest signed off version: v5.2 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • amelogenesis imperfecta, MONDO:0019507
    • sensorineural hearing loss disorder, MONDO:0020678
    • intellectual disability, MONDO:0001071
    Tags
    • watchlist