Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652, COENZYME Q10 DEFICIENCY, PRIMARY, 3 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652, Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of ubiquinone metabolism and biosynthesis |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 3, 614652 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 3 #614652, Leigh syndrome |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 3, OMIM:614652, Leigh syndrome, MONDO:0009723 |