Laterality disorders and isomerism
Gene: NODAL
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 1:07 p.m. | Last Modified: 31 Jan 2023, 1:07 p.m.
Panel Version: 2.3
Association of NODAL with heterotaxy disorders was discussed at GenCC meeting (13/09/2022) and it was agreed that the evidence is MODERATE for this gene-disease association. Multiple cases where variants were inherited from unaffected parents indicating that this gene is likely conferring a risk with reduced penetrance for the phenotype.Created: 14 Oct 2022, 9:33 a.m. | Last Modified: 14 Oct 2022, 9:33 a.m.
Panel Version: 1.51
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 11:31 p.m. | Last Modified: 5 Oct 2022, 11:31 p.m.
Panel Version: 1.51
This gene has been tagged for GMS expert review.Created: 4 May 2021, 10:10 a.m. | Last Modified: 4 May 2021, 10:10 a.m.
Panel Version: 1.44
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). All of these variants would be VOUS or worse using ACMG criteria. Consider downgrading on all other panels.Created: 11 May 2020, 10:37 a.m. | Last Modified: 11 May 2020, 10:37 a.m.
Panel Version: 1.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heterotaxy, visceral, 5 (MIM#270100)
Publications
On CGGL Royal Brompton panel. Good literature evidence (Mohapatra et al 2009) and good experimental evidence.Created: 25 Nov 2019, 11:15 p.m. | Last Modified: 25 Nov 2019, 11:15 p.m.
Panel Version: 0.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OMIM Heterotaxy, visceral, 5270100
Publications
Variants in this GENE are reported as part of current diagnostic practice
From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). In 14/269 cases with heterotaxy and or cardiovascular malformations, mutations identified in listed PMID. Mutations included missense, splice site and an in-frame indel.
Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy syndrome; Heterotaxy, visceral, 5, 270100; Visceral Heterotaxy; Heterotaxy, Visceral, 5, Autosomal. Publications: 19064609Created: 16 Jan 2019, 1:31 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: NODAL; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Publications
Tag Q3_22_rating was removed from gene: NODAL. Tag Q3_22_expert_review was removed from gene: NODAL.
Source Expert Review Red was added to NODAL. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q2_21_expert_review was removed from gene: NODAL. Tag Q3_22_rating tag was added to gene: NODAL. Tag Q3_22_expert_review tag was added to gene: NODAL.
Tag Q2_21_expert_review tag was added to gene: NODAL.
Publications for gene: NODAL were set to 19064609
Phenotypes for gene: NODAL were changed from Heterotaxy, visceral, 5270100 to Heterotaxy, visceral, 5, 270100
Phenotypes for gene: NODAL were changed from to Heterotaxy, visceral, 5270100
Mode of inheritance for gene: NODAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NODAL were set to
Source Expert Review Green was added to NODAL. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NODAL was added gene: NODAL was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: NODAL was set to