Familial non syndromic congenital heart disease
Gene: SEMA3D

SEMA3D (semaphorin 3D)
EnsemblGeneIds (GRCh38): ENSG00000153993
EnsemblGeneIds (GRCh37): ENSG00000153993
OMIM: 609907, Gene2Phenotype
SEMA3D is in 3 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

No strong evidence that mutations cause congenital heart disease. Not recognised on OMIM or G2P
Created: 28 Nov 2016, 2:49 p.m.

Mode of inheritance
Unknown

Created: 28 Nov 2016, 2:49 p.m.

Panel version: 0.7

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Tetralogy of Fallot (Siversides (2012) PLoS Genet 8,e1002843)

OMIM

609907

Clinvar variants

Variants in SEMA3D

Penetrance

Complete

Publications

http://dx.doi.org/10.1371/journal.pgen.1002843

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

28 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).

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SEMA3D was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created