This Panel is marked as Internal
Isomerism and laterality disorders
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Literature
- Phenotypes
-
- Heterotaxy syndrome
- Heterotaxy, visceral, 5, 270100
- Visceral Heterotaxy, Heterotaxy, Visceral, 5, Autosomal
- OMIM
- 601265
- Clinvar variants
- Variants in NODAL
- Penetrance
- Complete
- Publications
-
- doi:10.1016/j.ejmg.2005.12.003
- Panels with this gene
-
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Intellectual disability
- Pituitary hormone deficiency
- Fetal anomalies
- Familial Neural Tube Defects
- Holoprosencephaly - NOT chromosomal
- Laterality disorders and isomerism
- Familial non syndromic congenital heart disease
- DDG2P
- Rare multisystem ciliopathy disorders
History Filter Activity
16 May 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)NODAL was added to Isomerism and laterality disorderspanel. Source: UKGTN
16 May 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)NODAL was added to Isomerism and laterality disorderspanel. Source: Radboud University Medical Center, Nijmegen
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NODAL was created by ellenmcdonagh
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NODAL was added to Isomerism and laterality disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature