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Prepair 1000+

Gene: SGCD

Green List (high evidence)

SGCD (sarcoglycan delta)
EnsemblGeneIds (GRCh38): ENSG00000170624
EnsemblGeneIds (GRCh37): ENSG00000170624
OMIM: 601411, Gene2Phenotype
SGCD is in 8 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association. Association with LGMD is DEFINITIVE by ClinGen. More than 10 unrelated families reported.

Childhood onset, progressive myopathy.

The dilated cardiomyopathy has a limited gene-disease association by ClinGen and is not applicable for expanded carrier screening.
Created: 4 Feb 2025, 5:03 a.m. | Last Modified: 4 Feb 2025, 5:03 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
OMIM
601411
Clinvar variants
Variants in SGCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sgcd has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SGCD were changed from Muscular dystrophy, limb-girdle, type 2F, 601287 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGCD were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Muscular dystrophy, limb-girdle, type 2F, 601287 (3) for gene: SGCD

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SGCD was added gene: SGCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)