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  3. PLXND1
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Congenital Heart Defect

Gene: PLXND1

Green List (high evidence)
PLXND1 (plexin D1)
EnsemblGeneIds (GRCh38): ENSG00000004399
EnsemblGeneIds (GRCh37): ENSG00000004399
OMIM: 604282, Gene2Phenotype
PLXND1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

10 individuals including four fetal 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)/truncus arteriosus.
Sources: Literature
Created: 9 Mar 2023, 7:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital heart defects, multiple types, 9, MIM# 620294

Publications

Created: 9 Mar 2023, 7:12 a.m.

Panel version: 0.276

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects, multiple types, 9, MIM# 620294
OMIM
604282
Clinvar variants
Variants in PLXND1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLXND1 were changed from Congenital heart disease, MONDO:0005453, PLXND1-related to Congenital heart defects, multiple types, 9, MIM# 620294

9 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plxnd1 has been classified as Green List (High Evidence).

9 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plxnd1 has been classified as Green List (High Evidence).

9 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLXND1 was added gene: PLXND1 was added to Congenital Heart Defect. 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 Congenital heart disease, MONDO:0005453, PLXND1-related Review for gene: PLXND1 was set to GREEN