Holoprosencephaly - NOT chromosomal
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
3 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 29 Jul 2019, 2:16 p.m. | Last Modified: 29 Jul 2019, 2:16 p.m.
Panel Version: 1.20
Helen Brittain (Genomics England Curator)
Comment when marking as ready: No clear evidence of mutations in NODAL causing HPE in sufficient cases.Created: 30 May 2017, 4:16 p.m.
Comment on publications: Similarly, PTCH1, GAS1, TDGF1, CDON, FOXH1, NODAL, and SHH-regulating sequences LMBR1 and RBM33 showed no mutations held for diagnosis in the 257 cases sequenced. New case control studies need to be performed in larger cohorts to better evaluate their role and diagnosis potential in HPE.Created: 30 May 2017, 4:15 p.m.
Lara Menzies (Great Ormond Street Hospital )
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Holoprosencephaly
- 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
29 Jul 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NODAL.
31 May 2017, Gel status: 1
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted to version one after review within the genomics England curation team.
30 May 2017, Gel status: 1
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
30 May 2017, Gel status: 1
Set publications
Helen Brittain (Genomics England Curator)Publications for NODAL were set to 27363716
9 Dec 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)NODAL was created by oniblock
9 Dec 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)NODAL was added to Holoprosencephalypanel. Sources: Illumina TruGenome Clinical Sequencing Services