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Intellectual disability syndromic and non-syndromic

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

The association with early onset multi system mitochondrial disorder caused by bi-allelic variants is well established. DD/ID can be seen in condition.
Created: 3 Oct 2024, 2:18 a.m. | Last Modified: 3 Oct 2024, 2:18 a.m.
Panel Version: 0.6307

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

3 Oct 2024, 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).

3 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377

3 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCO2 were set to

3 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCO2 was added gene: SCO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCO2 was set to Unknown