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Cardiomyopathies - including childhood onset

Gene: SGCD

Green List (high evidence)

SGCD (sarcoglycan delta)
EnsemblGeneIds (GRCh38): ENSG00000170624
EnsemblGeneIds (GRCh37): ENSG00000170624
OMIM: 601411, Gene2Phenotype
SGCD is in 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

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

Rebecca Whittington (South West GLH)

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

History Filter Activity

3 Dec 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated, 1L to Cardiomyopathy, dilated, 1L, 606685

3 Dec 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SGCD were set to

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SGCD.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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