Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 3 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 3 610505 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 3, 610505, Combined oxidative phosphorylation deficiency 3 610505, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 3.44 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 3, 610505, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Combined oxidative phosphorylation deficiency 3 610505 |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 |
Component of the following Super Panels:
Signed-off version 3.39 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 3 610505 |