Dilated and arrhythmogenic cardiomyopathy
Gene: SGCD
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Cardiomyopathy, dilated, 1L OMIM#606685; Muscular dystrophy, limb-girdle, autosomal recessive 6 OMIM#601287Created: 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
Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has Red/Amber reviews from these labs and therefore demoted to Amber for further discussion.Created: 24 Mar 2019, 10:24 a.m.
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:21 p.m.
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.
Gene: sgcd has been classified as Amber List (Moderate Evidence).
gene: SGCD was added gene: SGCD was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: SGCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SGCD were set to 19259135; 20186049; 27532257 Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Cardiomyopathy, dilated, 1L; Cardiomyopathy, dilated, 1L (606685)