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Additional findings_Paediatric

Gene: SGCG

Green List (high evidence)

SGCG (sarcoglycan gamma)
EnsemblGeneIds (GRCh38): ENSG00000102683
EnsemblGeneIds (GRCh37): ENSG00000102683
OMIM: 608896, Gene2Phenotype
SGCG is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2C
OMIM
608896
Clinvar variants
Variants in SGCG
Penetrance
None
Panels with this gene

History Filter Activity

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: SGCG was added gene: SGCG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C