Cardiomyopathies - including childhood onsetGene: SGCD
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
some evidence for cardiac involvment in limb-girdle muscular dystropy. Limited compelling evidence for role in DCM.
Created: 26 Nov 2019, 5:29 p.m. | Last Modified: 26 Nov 2019, 5:29 p.m.
Panel Version: 0.13
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
OMIM 606685 Cardiomyopathy, dilated, 1L; 601287 Muscular dystrophy, limb-girdle, autosomal recessive 6
Cardiomyopathy, dilated, 1L OMIM#606685; Muscular dystrophy, limb-girdle, autosomal recessive 6 OMIM#601287
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 6 variants all but one ?DM, though a number listed in Walsh through LMM and classified as LP. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants though), Hershberger 2013 Nat Rev Cardiol 10:531. LGMD phenotype which can have cardiac involvement can be earlier onset with cardiomyopathy as a later onset feature. Tsubata J. Clin. Invest. 106:655662 (2000): reports a family where sudden death seen in a 14 and 17 year old.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated, 1L to Cardiomyopathy, dilated, 1L, 606685
Publications for gene: SGCD were set to
Source NHS GMS was added to SGCD.
gene: SGCD was added gene: SGCD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCD were set to Cardiomyopathy, dilated, 1L