Possible mitochondrial disorder - nuclear genes

Gene: SQOR

Green List (high evidence)

Comment from NHS Genomic Medicine Service patients have Leigh syndrome like brain lesions and encephalopathy as well as lactic acidosisand decreased mitochondrial respiratory chain complex IV in tissue.

Created: 3 Mar 2022, 2:25 p.m. | Last Modified: 3 Mar 2022, 2:25 p.m.

Panel Version: 1.67

The rating of this gene has been updated following NHS Genomic Medicine Service approval

Created: 3 Mar 2022, 2:25 p.m. | Last Modified: 3 Mar 2022, 2:25 p.m.

Panel Version: 1.67

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

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

• PMID: 32160317