Progressive cardiac conduction disease
Gene: TBX5
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
Conduction disease appears to be a symptom of Holt-Oram syndrome.Created: 25 Sep 2019, 3:01 p.m. | Last Modified: 25 Sep 2019, 3:01 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holt-Oram syndrome 142900
Publications
Pathogenic variants cause Holt-Oram syndrome .Conduction defects reported without other cardiac features, but all patients should have radial ray abnormalitiesCreated: 23 Sep 2019, 2:24 p.m. | Last Modified: 23 Sep 2019, 2:24 p.m.
Panel Version: 0.28
Variants in this GENE are reported as part of current diagnostic practice
Holt-Oram syndrome (142900)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: TBX5 were changed from Holt-Oram syndrome 142900 to Holt-Oram syndrome, OMIM:142900
Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome 142900
Publications for gene: TBX5 were set to
Gene: tbx5 has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to TBX5. Mode of inheritance for gene TBX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: TBX5 was added gene: TBX5 was added to Progressive cardiac conduction disease. Sources: London South GLH Mode of inheritance for gene: TBX5 was set to