Dilated Cardiomyopathy and conduction defects
Gene: SGCD
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
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.
Source South West GLH was added to SGCD. Mode of inheritance for gene SGCD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to SGCD.
Source North West GLH was added to SGCD. Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Cardiomyopathy, dilated, 1L (606685) for gene: SGCD Publications for gene SGCD were changed from to 27532257; 20186049; 19259135
Source Wessex and West Midlands GLH was added to SGCD. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SGCD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SGCD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene SGCD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SGCD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene SGCD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SGCD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene SGCD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SGCD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
SGCD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN