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  3. PLXNB3
Genes in panel
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Fetal anomalies

Gene: PLXNB3

Red List (low evidence)
PLXNB3 (plexin B3)
EnsemblGeneIds (GRCh38): ENSG00000198753
EnsemblGeneIds (GRCh37): ENSG00000198753
OMIM: 300214, Gene2Phenotype
PLXNB3 is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

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
This review was added on behalf of Dr Tazeen Ashraf (GOSH): PLXNB3 not a gene on panelapp. 2 patients described in the same family with Congenital heart disease and neurodevelopmental difficulties. No prenatal phenotype reported. More evidence required to add this gene.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital heart disease with neurodevelopmental disabilities

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.148

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • congenital heart disease with neurodevelopmental disabilities
OMIM
300214
Clinvar variants
Variants in PLXNB3
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes congenital heart disease with neurodevelopmental disabilities for gene: PLXNB3

9 Mar 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: PLXNB3 was added gene: PLXNB3 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: PLXNB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted