Paediatric or syndromic cardiomyopathy

Gene: SGCD

The gene-disease relationship between SGCD and dilated cardiomyopathy has been classified as No Known Disease Relationship by ClinGen (Dilated Cardiomyopathy GCEP, March 2025).

Created: 13 Jan 2026, 4:10 p.m. | Last Modified: 13 Jan 2026, 4:10 p.m.

Panel Version: 7.92

Green List (high evidence)

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

I don't know

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

Phenotypes
OMIM 606685 Cardiomyopathy, dilated, 1L; 601287 Muscular dystrophy, limb-girdle, autosomal recessive 6

Publications

• 18779423
• 23900355
• 10735275

I don't know

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