Familial Neural Tube Defects
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Holoprosencephaly
- OMIM
- 601265
- Clinvar variants
- Variants in NODAL
- Penetrance
- Complete
- 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
25 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)NODAL was created by oniblock
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)NODAL was added to Familial Neural Tube Defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services