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  3. SGCD
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Additional findings_Paediatric

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Childhood onset muscular dystrophy. Diagnosis will prevent further investigation. Rated as 'c' in Babyseq as considered only with dilated cardiomyopathy phenotype for which there is limited gene-disease evidence.
Created: 24 Sep 2020, 12:44 a.m. | Last Modified: 24 Sep 2020, 12:44 a.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 24 Sep 2020, 12:44 a.m.
Last Modified: 24 Sep 2020, 12:44 a.m.
Panel version: 0.20

Details

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

History Filter Activity

24 Sep 2020, 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).

24 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Sep 2020, 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).

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to SGCD. Source Expert Review Red was added to SGCD. Added phenotypes Cardiomyopathy, dilated for gene: SGCD Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Aug 2020, 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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