| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711, Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711 |
Component of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 |