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  2. Dilated Cardiomyopathy
  3. SOD2
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Dilated Cardiomyopathy

Gene: SOD2

Red List (low evidence)
SOD2 (superoxide dismutase 2)
EnsemblGeneIds (GRCh38): ENSG00000112096
EnsemblGeneIds (GRCh37): ENSG00000112096
OMIM: 147460, Gene2Phenotype
SOD2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single patient from a consanguineous family, with functional evidence (reduced total SOD activity in patient cells, lenti-rescue experiment restored mitochondrial SOD (SOD2) activity). (PMID: 31494578)
Sources: Literature
Created: 20 Apr 2020, 4:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal neonatal dilated cardiomyopathy

Publications

Created: 20 Apr 2020, 4:52 a.m.

Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lethal neonatal dilated cardiomyopathy
OMIM
147460
Clinvar variants
Variants in SOD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sod2 has been classified as Red List (Low Evidence).

20 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOD2 was added gene: SOD2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: SOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SOD2 were set to 31494578 Phenotypes for gene: SOD2 were set to Lethal neonatal dilated cardiomyopathy Review for gene: SOD2 was set to RED