Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
R-numbers: R78 Signed-off version 3.24 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Cowchock syndrome, OMIM:310490, Combined oxidative phosphorylation deficiency 6, OMIM:300816 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Cowchock syndrome, OMIM:310490, Combined oxidative phosphorylation deficiency 6, OMIM:300816, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Disorders of mitochondrial apoptosis, Cowchock syndrome, 310490, Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Combined oxidative phosphorylation deficiency 6, 300816 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Disorders of mitochondrial apoptosis, Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Deafness, X-linked 5, OMIM:300614 |
R-numbers: R63 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Combined oxidative phosphorylation deficiency 6, 300816 |
Component of the following Super Panels:
Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232 |