Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: SGCB

Red List (low evidence)

SGCB (sarcoglycan beta)
EnsemblGeneIds (GRCh38): ENSG00000163069
EnsemblGeneIds (GRCh37): ENSG00000163069
OMIM: 600900, Gene2Phenotype
SGCB is in 7 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 4 MIM#604286

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
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

29 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: sgcb 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: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286

29 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: sgcb 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: SGCB was added gene: SGCB was added to gNBS. Sources: BabySeq Category A gene,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