Mitochondrial disorder with complex IV deficiency
Gene: SQOREnsemblGeneIds (GRCh38): ENSG00000137767
EnsemblGeneIds (GRCh37): ENSG00000137767
OMIM: 617658, Gene2Phenotype
SQOR is in 4 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619221).Created: 5 Jun 2025, 2:03 p.m. | Last Modified: 5 Jun 2025, 2:03 p.m.
Panel Version: 4.4
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approvalCreated: 3 Mar 2022, 2:09 p.m. | Last Modified: 3 Mar 2022, 2:09 p.m.
Panel Version: 1.13
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 26 Jan 2021, 3:12 p.m. | Last Modified: 26 Jan 2021, 3:12 p.m.
Panel Version: 1.7
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, 3:10 p.m.
Panel Version: 1.6
Carl Fratter (Oxford University Hospitals NHS Trust)
Requires review for GMS - should this be considered a primary mitochondrial disorder?
Sources: LiteratureCreated: 24 Jan 2021, 4:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome
Publications
- PMID: 32160317
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Sulfide:quinone oxidoreductase deficiency, OMIM:619221
- OMIM
- 617658
- Clinvar variants
- Variants in SQOR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SQOR were changed from Leigh syndrome to Sulfide:quinone oxidoreductase deficiency, OMIM:619221
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag for-review was removed from gene: SQOR. Tag Q2_21_rating was removed from gene: SQOR.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to SQOR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SQOR.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SQOR were set to PMID: 32160317
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: SQOR.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: sqor has been classified as Amber List (Moderate Evidence).
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 Mitochondrial disorder with complex IV deficiency. 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