Familial non syndromic congenital heart disease
Gene: NODAL
NODAL (nodal growth differentiation factor)
EnsemblGeneIds (GRCh38): ENSG00000156574
EnsemblGeneIds (GRCh37): ENSG00000156574
OMIM: 601265, Gene2Phenotype
NODAL is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000156574
EnsemblGeneIds (GRCh37): ENSG00000156574
OMIM: 601265, Gene2Phenotype
NODAL is in 12 panels
1 review
Helen Brittain (Genomics England Curator)
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
-
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Familial Neural Tube Defects
- Laterality disorders and isomerism
- Familial non syndromic congenital heart disease
- DDG2P
- Skeletal dysplasia
- Fetal anomalies
- Pituitary hormone deficiency
- Thoracic dystrophies
- Primary ciliary disorders
- Holoprosencephaly - NOT chromosomal
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