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Fetal anomalies

Gene: SCO2

Green List (high evidence)

SCO2 (SCO2, cytochrome c oxidase assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000130489
EnsemblGeneIds (GRCh37): ENSG00000130489
OMIM: 604272, Gene2Phenotype
SCO2 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe neonatal presentations, and at least two reports of fetal presentations.
Created: 30 Dec 2021, 8:49 a.m. | Last Modified: 30 Dec 2021, 8:51 a.m.
Panel Version: 0.1666

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377

Publications

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: Generally severe, rapidly progressive hypertrophic cardiomyopathy that presents in the neonatal period, early spontaneous abortions and fetal wastage described in one family.
Created: 30 Dec 2021, 5:53 a.m. | Last Modified: 30 Dec 2021, 5:53 a.m.
Panel Version: 0.1660

History Filter Activity

30 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCO2 were changed from Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377

30 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCO2 were set to 15210538; 18924171

30 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sco2 has been classified as Green List (High Evidence).

30 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: sco2 has been classified as Amber List (Moderate Evidence).

30 Dec 2021, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SCO2 were changed from FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY

30 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: sco2 has been classified as Amber List (Moderate Evidence).

30 Dec 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SCO2 were set to 15210538; 18924171

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCO2 was added gene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 15210538; 18924171 Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY