Cardiomyopathies - including childhood onsetGene: TPM1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Cardiomyopathy, dilated, 1Y OMIM#611878; Cardiomyopathy, hypertrophic, 3 OMIM#115196; Left ventricular noncompaction 9 OMIM#611878
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 10/27 variants assoc with DCM classed as DM with some functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601. Probst Circ Cardiovasc Genet. 2011;4:367-374: describes a family with adult and paediatric onset disease with a TPM1 variant - grandaughter aged 5 required heart transplant.
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
Source NHS GMS was added to TPM1.
gene: TPM1 was added gene: TPM1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM1 were set to Cardiomyopathy, familial hypertrophic, 3; Cardiomyopathy, dilated, 1Y; Left ventricular noncompaction 9,