Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | 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 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
R-numbers: R257 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |
Component of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy, Coenzyme Q10 deficiency, primary, 1, OMIM:607426 |