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Primary lymphoedema

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

Ida Ertmanska (Genomics England Curator)

I don't know

Comment on list classification: There are 3 individuals from 2 families reported in literature with biallelic PLXNB2 variants and primary lymphoedema. Hence, this gene can only be rated Amber with the current evidence.
Created: 27 Mar 2026, 2:02 p.m. | Last Modified: 7 Apr 2026, 8:49 a.m.
Panel Version: 4.23
PMID: 38458752 Smith et al., 2024
Eight individuals from six families presented with a recessively inherited variable clinical condition, with core features of amelogenesis imperfecta (AI) and sensorineural hearing loss (SNHL), with variable intellectual disability. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in some cases.
Family 4 II:1 - Compound heterozygous c.2606del: p.(Phe869Serfs*45); c.3982_3986del: p.(Phe1328His*65) - showed hearing loss, amelogenesis imperfecta, bilateral primary lower limb lymphoedema (onset aged 3), nevus, cellulitis.
Family 5 II:1- Homozygous c.5197-337_5310del - showed mild/moderate ID, hearing loss, amelogenesis imperfecta, and bilateral primary lower limb lymphoedema.
Family 5 II:2 - Homozygous c.5197-337_5310del - showed ID, SNHL, amelogenesis imperfecta, and Unilateral lymphoedema of one foot.
Created: 27 Mar 2026, 2:01 p.m. | Last Modified: 27 Mar 2026, 2:01 p.m.
Panel Version: 4.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071

Publications

Created: 27 Mar 2026, 2:01 p.m.
Last Modified: 7 Apr 2026, 8:49 a.m.
Panel version: 4.21

Sahar Mansour (St George's University Hospitals NHS Foundation Trust)

I don't know

We have seen three families with pathogenic variants in this gene and primary lymphoedema
Sources: Literature
Created: 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

Created: 13 Mar 2026, 6:14 p.m.

Panel version: 4.21

Details

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

27 Mar 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag watchlist tag was added to gene: PLXNB2.

27 Mar 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: PLXNB2 were changed from amelogenesis imperfecta; hearing loss; intellectual disability; lymphoedema to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071

27 Mar 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: plxnb2 has been classified as Amber List (Moderate Evidence).

13 Mar 2026, Gel status: 0

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