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Rhabdomyolysis and metabolic muscle disorders

Gene: SGCA

Green List (high evidence)
SGCA (sarcoglycan alpha)
EnsemblGeneIds (GRCh38): ENSG00000108823
EnsemblGeneIds (GRCh37): ENSG00000108823
OMIM: 600119, Gene2Phenotype
SGCA is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 2.5
Comment on list classification: New gene added by Zornitza Stark. Rhabdomyolysis has been reported as a presenting feature in some cases including muscle weakness, exercise intolerance, myalgia, myoglobinuria, and hyperCKemia. Sufficient unrelated cases (>3) in literature to promote this gene to Green at the next GMS review.
Created: 17 Jan 2022, 12:47 p.m. | Last Modified: 17 Jan 2022, 12:47 p.m.
Panel Version: 1.74
Created: 17 Jan 2022, 12:47 p.m.
Last Modified: 17 Jan 2022, 12:47 p.m.
Panel version: 2.5

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated cases reported with rhabdomyolysis or exercise intolerance.
Sources: Expert list
Created: 7 Oct 2020, 10:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Oct 2020, 10:56 p.m.

Panel version: 1.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099
OMIM
600119
Clinvar variants
Variants in SGCA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_rating was removed from gene: SGCA.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SGCA. Source NHS GMS was added to SGCA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sgca has been classified as Amber List (Moderate Evidence).

17 Jan 2022, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_rating tag was added to gene: SGCA.

17 Jan 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 to Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099

7 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SGCA was added gene: SGCA was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCA were set to 27297959; 26453141; 23989969 Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Review for gene: SGCA was set to GREEN gene: SGCA was marked as current diagnostic