Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: SQOR

Amber List (moderate evidence)

SQOR (sulfide quinone oxidoreductase)
EnsemblGeneIds (GRCh38): ENSG00000137767
EnsemblGeneIds (GRCh37): ENSG00000137767
OMIM: 617658, Gene2Phenotype
SQOR is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 26 Jan 2021, 3:08 p.m. | Last Modified: 26 Jan 2021, 3:08 p.m.
Panel Version: 1.31
Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity. They conclude that "SQOR deficiency represents a new, potentially treatable, cause of Leigh disease".
Created: 26 Jan 2021, 3:07 p.m. | Last Modified: 26 Jan 2021, 3:11 p.m.
Panel Version: 1.31

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Requires review for GMS - should this be considered a primary mitochondrial disorder?
Sources: Literature
Created: 24 Jan 2021, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Leigh syndrome
Tags
for-review
OMIM
617658
Clinvar variants
Variants in SQOR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Jan 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: SQOR.

26 Jan 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SQOR were set to PMID: 32160317

26 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

24 Jan 2021, Gel status: 0

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

Carl Fratter (Oxford University Hospitals NHS Trust)

gene: SQOR was added gene: SQOR was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQOR were set to PMID: 32160317 Phenotypes for gene: SQOR were set to Leigh syndrome Review for gene: SQOR was set to AMBER