Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscle Weakness and Isolated Complex I Deficiency |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 5.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex I deficiency |
R-numbers: R353 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 6.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex I deficiency |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 |