Progressive cardiac conduction disease

Gene: NKX2-5

Green List (high evidence)

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

I don't know

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

I don't know

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

• 28259982
• 15109497

Green List (high evidence)

Likely pathogenic variant reported in diagnostic service associated with VSD and arrhythmia. Good evidence in literature

Created: 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

Green List (high evidence)

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 malformations

Created: 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

I don't know

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.