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Mendeliome

Gene: PLXNC1

Red List (low evidence)

PLXNC1 (plexin C1)
EnsemblGeneIds (GRCh38): ENSG00000136040
EnsemblGeneIds (GRCh37): ENSG00000136040
OMIM: 604259, Gene2Phenotype
PLXNC1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

This gene was included in the genes4epilepsy resource (PMID:36808730) and was reported as being associated with the clinical phenotype "malformations of cortical development". There are no current PubMed articles linking this gene with epilepsy however
Sources: Expert list
Created: 13 Feb 2024, 5:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malformations of cortical development

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Malformations of cortical development
OMIM
604259
Clinvar variants
Variants in PLXNC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plxnc1 has been classified as Red List (Low Evidence).

13 Feb 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLXNC1 was added gene: PLXNC1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PLXNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLXNC1 were set to 36808730 Phenotypes for gene: PLXNC1 were set to Malformations of cortical development Review for gene: PLXNC1 was set to RED