Primary lymphoedema
Gene: PLXNB2EnsemblGeneIds (GRCh38): ENSG00000196576
EnsemblGeneIds (GRCh37): ENSG00000196576
OMIM: 604293, Gene2Phenotype
PLXNB2 is in 6 panels
1 review
Sahar Mansour (St George's University Hospitals NHS Foundation Trust)
We have seen three families with pathogenic variants in this gene and primary lymphoedema
Sources: LiteratureCreated: 13 Mar 2026, 6:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
amelogenesis imperfecta; hearing loss; intellectual disability; lymphoedema
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- amelogenesis imperfecta
- hearing loss
- intellectual disability
- lymphoedema
- OMIM
- 604293
- Clinvar variants
- Variants in PLXNB2
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Sahar Mansour (St George's University Hospitals NHS Foundation Trust)gene: PLXNB2 was added gene: PLXNB2 was added to Primary lymphoedema. Sources: Literature 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 amelogenesis imperfecta; hearing loss; intellectual disability; lymphoedema Penetrance for gene: PLXNB2 were set to unknown Mode of pathogenicity for gene: PLXNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PLXNB2 was set to AMBER