Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
R-numbers: R61 Signed-off version 4.28 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
R-numbers: R353 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |