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  3. NODAL
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Fetal anomalies

Gene: NODAL

Red List (low evidence)
NODAL (nodal growth differentiation factor)
EnsemblGeneIds (GRCh38): ENSG00000156574
EnsemblGeneIds (GRCh37): ENSG00000156574
OMIM: 601265, Gene2Phenotype
NODAL is in 12 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

This gene should be demoted from Green to Red at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green on panel currently so to review for donwgrade. Amber on aus panel. Phenotype on OMIM is heterotaxy. Downgraded on heterotaxy panel in 2023 to red - all variants in publication reported are high freq in popoulation datasets. Downgrade to red
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heterotaxy, visceral, 5

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for HETEROTAXY SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Heterotaxy, visceral, 5, OMIM:270100
OMIM
601265
Clinvar variants
Variants in NODAL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2025, Gel status: 1

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_NHS_review was removed from gene: NODAL. Tag Q3_25_demote_red was removed from gene: NODAL.

12 Dec 2025, Gel status: 1

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to NODAL. Source NHS GMS was added to NODAL. Rating Changed from Green List (high evidence) to Red List (low evidence)

5 Sep 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NODAL were changed from Heterotaxy, visceral, 5; HETEROTAXY SYNDROME to Heterotaxy, visceral, 5, OMIM:270100

5 Sep 2025, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_NHS_review tag was added to gene: NODAL. Tag Q3_25_demote_red tag was added to gene: NODAL.

5 Sep 2025, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Heterotaxy, visceral, 5 for gene: NODAL Publications for gene: NODAL were updated from to 9354794; 19064609

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: NODAL was added gene: NODAL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME