1. Panels
  2. Holoprosencephaly and septo-optic dysplasia
  3. NODAL
STRs in panel
Prev Next
Regions in panel
Prev Next

Holoprosencephaly and septo-optic dysplasia

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Predominantly associated with complex congenital heart disease (Amber), no evidence for association with major brain abnormalities.
Created: 12 Sep 2022, 10:23 p.m. | Last Modified: 12 Sep 2022, 10:23 p.m.
Panel Version: 1.6
Minimal reports and variants in original publications present in gnomAD at a higher than expected frequency. PMID: 9354794 (1997): R183Q reported in affected daughter and unaffected mother. (26 hets; 1 hom in gnomAD) PMID: 19064609 (2009): Reported 4 missense, 1 indel and 2 splice site variants. G260R also found in unaffected individual, concluded to have incomplete penetrance (80 hets in gnomAD); R275C (13 hets in gnomAD); E203K (113 hets and 1 hom)
Created: 11 May 2020, 10:39 a.m. | Last Modified: 11 May 2020, 10:39 a.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heterotaxy, visceral, 5 (MIM#270100)

Publications

Created: 11 May 2020, 10:39 a.m.
Last Modified: 11 May 2020, 10:39 a.m.
Panel version: 1.6

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: Imported from Mendeliome panel version Imported from Ciliopathies 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
Publications
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

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

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NODAL were set to

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).

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 Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NODAL was set to Unknown