Familial non syndromic congenital heart disease

Gene: NODAL

Green List (high evidence)

NODAL (nodal growth differentiation factor)
EnsemblGeneIds (GRCh38): ENSG00000156574
EnsemblGeneIds (GRCh37): ENSG00000156574
OMIM: 601265, Gene2Phenotype
NODAL is in 13 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

In 14/269 cases with heterotaxy and or cardiovascular malformations, mutations identified in listed PMID. Mutations included missense, splice site and an in-frame indel.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Heterotaxy syndrome; Heterotaxy, visceral, 5, 270100; Visceral Heterotaxy; Heterotaxy, Visceral, 5, Autosomal

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
  • UKGTN
Phenotypes
  • Heterotaxy syndrome
  • Heterotaxy, visceral, 5, 270100
  • Visceral Heterotaxy
  • Heterotaxy, Visceral, 5, Autosomal
OMIM
601265
Clinvar variants
Variants in NODAL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jul 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

NODAL was created by helen.brittain

4 Jul 2017, Gel status: 3

Added New Source

Helen Brittain (Genomics England Curator)

NODAL was added to Familial non syndromic congenital heart diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN