Dilated Cardiomyopathy and conduction defects

Gene: SGCD

Green List (high evidence)

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.

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.

Created: 20 Feb 2019, 2:17 p.m.

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 36 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).

Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

• 19259135
• 20186049
• 27532257

Variants in this GENE are reported as part of current diagnostic practice

Comment when marking as ready: On Manchester diagnostic panel

Created: 14 Feb 2016, 4:21 p.m.

I don't know

Not fully reviewed. Would be interested to hear findings of Manchester laboratory testing this gene in DCM cohorts.

Created: 17 Jan 2019, 5:41 p.m.