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  3. SUCLG1
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Rhabdomyolysis and Metabolic Myopathy

Gene: SUCLG1

Green List (high evidence)
SUCLG1 (succinate-CoA ligase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000163541
EnsemblGeneIds (GRCh37): ENSG00000163541
OMIM: 611224, Gene2Phenotype
SUCLG1 is in 10 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

well established association
Created: 21 Feb 2022, 4:36 a.m. | Last Modified: 21 Feb 2022, 4:36 a.m.
Panel Version: 0.11011

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400

Publications

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

Created: 21 Feb 2022, 4:36 a.m.
Last Modified: 21 Feb 2022, 4:36 a.m.
Panel version: Imported from Mendeliome panel version 0.11011

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 unrelated cases with a metabolic myopathy
Sources: Expert Review
Created: 24 Feb 2020, 9:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400

Publications

Created: 24 Feb 2020, 9:36 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.68

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review
Phenotypes
  • mitochondrial DNA depletion syndrome 9 MONDO:0009504
OMIM
611224
Clinvar variants
Variants in SUCLG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: suclg1 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: suclg1 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SUCLG1 was added gene: SUCLG1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLG1 were set to 30560055; 29217198 Phenotypes for gene: SUCLG1 were set to mitochondrial DNA depletion syndrome 9 MONDO:0009504