Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COENZYME Q10 DEFICIENCY 607426 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
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, 1, OMIM:607426 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426, coenzyme Q10 deficiency, primary, 1, MONDO:0011829 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy, Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |