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Mendeliome

Gene: PLXND1

Green List (high evidence)

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

2 reviews

Achchuthan Shanmugasundram (Genomics England)

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.
Created: 8 Mar 2023, 5:11 p.m. | Last Modified: 8 Mar 2023, 7:19 p.m.
Panel Version: 1.702

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Truncus arteriosus, HP:0001660

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

De novo variants in 3 unrelated individuals with Moebius syndrome with some functional evidence.
Sources: Literature
Created: 2 Nov 2020, 8:25 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Möbius syndrome; Congenital heart defects, multiple types, 9, MIM# 620294

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Möbius syndrome, MONDO:0008006
  • 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 Möbius syndrome, MONDO:0008006; Congenital heart disease, MONDO:0005453, PLXND1-related to Möbius syndrome, MONDO:0008006; Congenital heart defects, multiple types, 9, MIM# 620294

9 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLXND1 were changed from Möbius syndrome to Möbius syndrome, MONDO:0008006; Congenital heart disease, MONDO:0005453, PLXND1-related

9 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLXND1 were set to 26068067

9 Mar 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLXND1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Nov 2020, 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).

2 Nov 2020, 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).

2 Nov 2020, 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 Mendeliome. Sources: Literature Mode of inheritance for gene: PLXND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLXND1 were set to 26068067 Phenotypes for gene: PLXND1 were set to Möbius syndrome Review for gene: PLXND1 was set to GREEN