Progressive cardiac conduction disease
Gene: TBX3
Comment on phenotypes: This gene is also associated with Ulnar-mammary syndrome 181450Created: 2 Mar 2021, 3:56 p.m. | Last Modified: 2 Mar 2021, 3:56 p.m.
Panel Version: 1.37
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Limited literature associating this gene with conduction disease.Created: 2 Oct 2019, 10:01 a.m. | Last Modified: 2 Oct 2019, 10:01 a.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ulnar-mammary syndrome 181450
Publications
Ulnar-mammary syndrome (181450)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
Phenotypes for gene: TBX3 were changed from to Heart conduction disease, MONDO:0000992
Publications for gene: TBX3 were set to
Gene: tbx3 has been classified as Red List (Low Evidence).
Gene: tbx3 has been classified as Amber List (Moderate Evidence).
gene: TBX3 was added gene: TBX3 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted