Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R58 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY 124000 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial Diseases, Isolated complex III deficiency, Mitochondrial Respiratory Chain Complex III Deficiency, Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Mitochondrial complex III deficiency, nuclear type 2, 615157 |
R-numbers: R355 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex III deficiency, Mitochondrial complex III deficiency, nuclear type 2, 615157, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex III Deficiency |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 |