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Cardiomyopathy_Paediatric
Gene: SCO1

SCO1 (SCO1, cytochrome c oxidase assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000133028
EnsemblGeneIds (GRCh37): ENSG00000133028
OMIM: 603644, Gene2Phenotype
SCO1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four unrelated families reported, typically presenting with lactatic acidosis and encephalopathy in infancy. One had significant HCM.
Created: 24 Oct 2020, 11:44 p.m. | Last Modified: 24 Oct 2020, 11:44 p.m.

Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048

Publications

Created: 24 Oct 2020, 11:44 p.m.
Last Modified: 24 Oct 2020, 11:44 p.m.
Panel version: 0.26

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
MetBioNet
NHS GMS

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048

OMIM

Clinvar variants

Variants in SCO1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sco1 has been classified as Amber List (Moderate Evidence).

24 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sco1 has been classified as Green List (High Evidence).

24 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048

24 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCO1 were set to

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCO1 was added gene: SCO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110