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BabyScreen+ newborn screening

Gene: SGCG

Red List (low evidence)

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

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Established gene-disease association.

Childhood onset, progressive myopathy.

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Created: 29 Oct 2022, 9:06 a.m. | Last Modified: 29 Oct 2022, 9:06 a.m.
Panel Version: 0.688

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700
OMIM
608896
Clinvar variants
Variants in SGCG
Penetrance
None
Panels with this gene

History Filter Activity

29 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: sgcg has been classified as Red List (Low Evidence).

29 Oct 2022, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, type 2C to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700

29 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: sgcg has been classified as Red List (Low Evidence).

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green 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