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Mendeliome

Gene: SOD2

Red List (low evidence)

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

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

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)
Created: 20 Apr 2020, 2:39 a.m. | Last Modified: 20 Apr 2020, 2:39 a.m.
Panel Version: 0.2361

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal neonatal dilated cardiomyopathy

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not a Mendelian gene-disease association.
Created: 2 Feb 2020, 3:38 a.m. | Last Modified: 2 Feb 2020, 3:38 a.m.
Panel Version: 0.1161

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Microvascular complications of diabetes 6} 612634

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Microvascular complications of diabetes 6} 612634
  • 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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOD2 were changed from {Microvascular complications of diabetes 6} 612634 to {Microvascular complications of diabetes 6} 612634; Lethal neonatal dilated cardiomyopathy

20 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOD2 were set to

20 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Feb 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).

2 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOD2 were changed from to {Microvascular complications of diabetes 6} 612634

2 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOD2 was added gene: SOD2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOD2 was set to Unknown