Laterality disorders and isomerismGene: NODAL
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
Heterotaxy, visceral, 5 (MIM#270100)
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
OMIM Heterotaxy, visceral, 5270100
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: 19064609
Created: 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 given
Created: 5 Dec 2018, 12:52 p.m.
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