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  3. NODAL
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Ciliopathies

Gene: NODAL

Red List (low evidence)
NODAL (nodal growth differentiation factor)
EnsemblGeneIds (GRCh38): ENSG00000156574
EnsemblGeneIds (GRCh37): ENSG00000156574
OMIM: 601265, Gene2Phenotype
NODAL is in 8 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Belongs to the heterotaxy gene list
Created: 11 May 2020, 3:12 a.m. | Last Modified: 11 May 2020, 3:12 a.m.
Panel Version: 0.136

Phenotypes
Heterotaxy, visceral, 5 (MIM#270100)

Created: 11 May 2020, 3:12 a.m.
Last Modified: 11 May 2020, 3:12 a.m.
Panel version: 0.136

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 5 (MIM#270100)
Tags
disputed
OMIM
601265
Clinvar variants
Variants in NODAL
Penetrance
None
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: NODAL.

11 May 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NODAL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nodal has been classified as Red List (Low Evidence).

11 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NODAL were changed from to Heterotaxy, visceral, 5 (MIM#270100)

11 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nodal has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NODAL was added gene: NODAL was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NODAL was set to Unknown