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  2. Pituitary hormone deficiency
  3. NODAL
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Pituitary hormone deficiency

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

1 review

Ivone Leong (Genomics England Curator)

Comment on list classification: Demonted from amber to red. NODAL is a red gene on the Holoprosencephaly panel (Version 1.6) and there is insufficient evidence to suggest it is involved in pituitary hormone deficiency.
Created: 14 Dec 2018, 1:38 p.m.
Created: 14 Dec 2018, 1:38 p.m.

Panel version: 0.51

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly
  • Heterotaxy, visceral, 5 (270100)
OMIM
601265
Clinvar variants
Variants in NODAL
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

14 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

10 Dec 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: NODAL was added gene: NODAL was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NODAL were set to Holoprosencephaly; Heterotaxy, visceral, 5 (270100)