Inherited white matter disorders

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 14 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least eight variants reported. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 24 Aug 2016, 1:39 p.m.
Comment on phenotypes: Also associated with Myopia 6 608908
Created: 24 Aug 2016, 1:38 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_665

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

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

24 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377

24 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

SCO2 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN

24 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCO2 were set to 25655951

24 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

SCO2 was created by [email protected]

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

SCO2 was added to Inherited white matter disorderspanel. Sources: Expert list