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  3. SQOR
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Mitochondrial disease

Gene: SQOR

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families and some functional data.
Sources: Literature
Created: 31 Jan 2021, 11:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221

Publications

Created: 31 Jan 2021, 11:12 a.m.

Panel version: 0.581

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leigh-like disorder
  • Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
OMIM
617658
Clinvar variants
Variants in SQOR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SQOR were changed from Leigh-like disorder to Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221

31 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SQOR was added gene: SQOR was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQOR were set to 32160317 Phenotypes for gene: SQOR were set to Leigh-like disorder Review for gene: SQOR was set to AMBER