| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Perrault syndrome 4, OMIM:615300 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis |
Green in Monogenic hearing lossR-numbers: R67 Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Perrault syndrome 4, OMIM:615300 |
R-numbers: R63 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis |
Green in White matter disorders - adult onsetR-numbers: R62 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Leukodystrophy |