| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 8, Isolated complex III deficiency, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle, leukoencephalopathy and complex III deficiency, 615838 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 |
R-numbers: R355 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 8, 615838 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex III deficiency, Mitochondrial complex III deficiency, nuclear type 8, 615838, leukoencephalopathy and complex III deficiency, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle |
R-numbers: R63 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 8, 615838 |
Component of the following Super Panels:
Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 8, leukoencephalopathy and complex III deficiency, 615838, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle |