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Cardiomyopathies - including childhood onset

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

4 reviews

Rebecca Whittington (South West GLH)

I don't know

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 OMIM#604377; Myopia 6 OMIM#608908
Created: 25 Mar 2019, 4:30 p.m.
https://omim.org/clinicalSynopsis/604377 infantile onset AR gene. HCM associated. On HGMD very mixed phentypes with Cardioencephalomyopathy, fatal infantile. Mitochondrial related disease: Chadha (2014) Bioinformation 10: 329 PubMed: 25097374.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SCO2; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial Diseases
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • syndromic HCM
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
  • Myopia 6, 608908
  • Mitochondrial Respiratory Chain Complex IV Deficiency
OMIM
604272
Clinvar variants
Variants in SCO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: SCO2 was added gene: SCO2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 27604308 Phenotypes for gene: SCO2 were set to Isolated complex IV deficiency; Mitochondrial Diseases; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); syndromic HCM; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Respiratory Chain Complex IV Deficiency