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  2. Familial non syndromic congenital heart disease
  3. PLXND1
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Familial non syndromic congenital heart disease

Gene: PLXND1

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

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: Recognised as possible association on G2P. Only identified in two families
Created: 30 Nov 2016, 12:49 p.m.
Only identified in two siblings
Created: 30 Nov 2016, 12:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Truncus arteriosus

Publications

Created: 30 Nov 2016, 12:47 p.m.

Panel version: 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Truncus arteriosus
OMIM
604282
Clinvar variants
Variants in PLXND1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

30 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

30 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

30 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

PLXND1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature

30 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

PLXND1 was created by agardham