Progressive cardiac conduction disease
Gene: NKX2-5
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.46
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Small number of reports of atrioventricular conduction defects in literature.Created: 25 Sep 2019, 2:51 p.m. | Last Modified: 25 Sep 2019, 2:51 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 7, with or without AV conduction defects 108900
Publications
Likely pathogenic variant reported in diagnostic service associated with VSD and arrhythmia. Good evidence in literatureCreated: 23 Sep 2019, 2:14 p.m. | Last Modified: 23 Sep 2019, 2:20 p.m.
Panel Version: 0.28
Variants in this GENE are reported as part of current diagnostic practice
Atrial septal defect 7, with or without AV conduction defects (108900), Conotruncal heart malformations, variable (217095), Hypoplastic left heart (syndrome 2 (614435), Hypothyroidism, congenital nongoitrous, 5 (225250), Tetralogy of Fallot (187500), Ventricular septal defect 3 (614432)Created: 25 Mar 2019, 4:30 p.m.
Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformationsCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Phenotypes for gene: NKX2-5 were changed from Atrial septal defect 7, with or without AV conduction defects 108900 to Atrial septal defect 7, with or without AV conduction defects OMIM:108900
Source Expert Review Green was added to NKX2-5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects 108900
Publications for gene: NKX2-5 were set to
Gene: nkx2-5 has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to NKX2-5. Mode of inheritance for gene NKX2-5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: NKX2-5 was added gene: NKX2-5 was added to Progressive cardiac conduction disease. Sources: London South GLH Mode of inheritance for gene: NKX2-5 was set to