1. Panels
  2. Congenital ophthalmoplegia
  3. PLXND1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital ophthalmoplegia

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 26068067 : de novo mutations in 3 unrelated patients with moebius syndrome with some functional evidence.
Sources: Literature
Created: 2 Nov 2020, 1:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
möbius syndrome

Publications

Created: 2 Nov 2020, 1:36 p.m.

Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Möbius syndrome
OMIM
604282
Clinvar variants
Variants in PLXND1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLXND1 were changed from möbius syndrome to Möbius syndrome

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: 0

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

gene: PLXND1 was added gene: PLXND1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: PLXND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLXND1 were set to PMID: 26068067 Phenotypes for gene: PLXND1 were set to möbius syndrome Review for gene: PLXND1 was set to GREEN