Paediatric disorders - additional genes
Gene: PLXND1
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 1:16 p.m. | Last Modified: 11 Oct 2023, 1:16 p.m.
Panel Version: 3.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is sufficient evidence (>3 unrelated cases) to be promoted to GREEN rating at the next GMS panel update.Created: 8 Mar 2023, 7:38 p.m. | Last Modified: 8 Mar 2023, 7:38 p.m.
Panel Version: 2.9
10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles.
This gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM.
Sources: LiteratureCreated: 8 Mar 2023, 7:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Truncus arteriosus, HP:0001660
Publications
Tag Q1_23_promote_green was removed from gene: PLXND1.
Source Expert Review Green was added to PLXND1. Source NHS GMS was added to PLXND1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: plxnd1 has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green tag was added to gene: PLXND1.
gene: PLXND1 was added gene: PLXND1 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXND1 were set to 35396997 Phenotypes for gene: PLXND1 were set to Truncus arteriosus, HP:0001660 Review for gene: PLXND1 was set to GREEN