Cardiomyopathies - including childhood onsetGene: SGCD
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
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
Source Expert Review Amber was added to SGCD. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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