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Prepair 1000+

Gene: SGCB

Green List (high evidence)

SGCB (sarcoglycan beta)
EnsemblGeneIds (GRCh38): ENSG00000163069
EnsemblGeneIds (GRCh37): ENSG00000163069
OMIM: 600900, Gene2Phenotype
SGCB is in 7 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.Childhood onset, progressive myopathy. Loss of ability to walk before 20y/o. No treatment.
Created: 5 Feb 2025, 6:12 a.m. | Last Modified: 5 Feb 2025, 6:12 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
OMIM
600900
Clinvar variants
Variants in SGCB
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E, 604286 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Muscular dystrophy, limb-girdle, type 2E, 604286 (3) for gene: SGCB

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: SGCB was added gene: SGCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)