| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial Diseases, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), ?Mitochondrial complex IV deficiency, 220110, Isolated complex IV deficiency, Mitochondrial Respiratory Chain Complex IV Deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
R-numbers: R356 Signed-off version 3.20 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, 220110 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex IV deficiency, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), ?Mitochondrial complex IV deficiency, 220110, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex IV Deficiency |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, 220110 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial Leukoencephalopathy |