DDG2P
Gene: PLXNB2

PLXNB2 (plexin B2)
EnsemblGeneIds (GRCh38): ENSG00000196576
EnsemblGeneIds (GRCh37): ENSG00000196576
OMIM: 604293, Gene2Phenotype
PLXNB2 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability are moderate, biallelic_autosomal and loss of function (PMID:38458752). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03727.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability

Publications

38458752

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability

OMIM

604293

Clinvar variants

Variants in PLXNB2

Penetrance

None

Publications

38458752

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PLXNB2 was added gene: PLXNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to 38458752 Phenotypes for gene: PLXNB2 were set to PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability

DDG2P Gene: PLXNB2