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Cardiomyopathies - including childhood onset

Gene: SGCD

Amber List (moderate 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)

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

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

8 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to SGCD. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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