Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COENZYME Q10 DEFICIENCY 607426 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar Ataxia Type, Primary coenzyme Q10 deficiency 4, 612016, Coenzyme Q10 deficiency, primary 4, 612016 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 4, 612016 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016, COENZYME Q10 DEFICIENCY |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 4, 612016, Coenzyme Q10 deficiency |
R-numbers: R63 Signed-off version 1.17 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 |
Component of the following Super Panels:
Signed-off version 1.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type |