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DDG2P

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 Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PLXND1-related Moebius syndrome are limited, monoallelic_autosomal and undetermined (PMID:26068067). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00327. The DDG2P confidence category, allelic requirement and molecular mechanism for PLXND1-related cardiac malformation syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 24254849, 35396997). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01509.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease PLXND1-related cardiac malformation syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMIDs: 35396997;24254849). The DDG2P confidence category for the disease MOEBIUS SYNDROME is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26068067).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PLXND1-related Moebius syndrome; OMIM:157900.0; MONDO:0008006; PLXND1-related cardiac malformation syndrome; MOEBIUS SYNDROME; OMIM:620294.0; MONDO:0859532

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • MOEBIUS SYNDROME
  • TRUNCUS ARTERIOSIS
OMIM
604282
Clinvar variants
Variants in PLXND1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: PLXND1 was changed from Other - please provide details in the comments to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PLXND1. Mode of inheritance for gene PLXND1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXND1 were updated from 24254849 to 35396997; 24254849; 26068067 Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes TRUNCUS ARTERIOSIS for gene: PLXND1 Publications for gene PLXND1 were changed from to 24254849

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PLXND1 was added gene: PLXND1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLXND1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PLXND1 were set to MOEBIUS SYNDROME Mode of pathogenicity for gene: PLXND1 was set to Other - please provide details in the comments