Possible mitochondrial disorder - nuclear genes
Gene: SQOR
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 approvalCreated: 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
Requires review for GMS - should this be considered a primary mitochondrial disorder?
Sources: LiteratureCreated: 24 Jan 2021, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome
Publications
Tag for-review was removed from gene: SQOR.
Source Expert Review Green was added to SQOR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: sqor has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SQOR.
Publications for gene: SQOR were set to PMID: 32160317
Gene: sqor has been classified as Amber List (Moderate Evidence).
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