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  3. PLXNB2
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Fetal anomalies

Gene: PLXNB2

Amber List (moderate evidence)
PLXNB2 (plexin B2)
EnsemblGeneIds (GRCh38): ENSG00000196576
EnsemblGeneIds (GRCh37): ENSG00000196576
OMIM: 604293, Gene2Phenotype
PLXNB2 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

Not omim morbid. Smith et al 2023 - 8 from 6 families. ID, SNHL and AI. 1 had IUGR and unilateral renal agenesis. 3 with lower limb lymphoedema - but 1 had onset age 3, others (sibs) onset not documented.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
amelogenesis imperfecta, hearing loss and intellectual disability

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • amelogenesis imperfecta, hearing loss and intellectual disability
OMIM
604293
Clinvar variants
Variants in PLXNB2
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes amelogenesis imperfecta, hearing loss and intellectual disability for gene: PLXNB2

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: PLXNB2 was added gene: PLXNB2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal