Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889, Combined oxidative phosphorylation deficiency 8, OMIM:614096, fetal hydrops, cardiomyopathy, polyhydramnios, pulmonary effusion |
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 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 8, 614096, infantile mitochondrial cardiomyopathy |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 8, 614096, infantile mitochondrial cardiomyopathy |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 8, 614096, infantile mitochondrial cardiomyopathy, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy, progressive, with ovarian failure, 615889 |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy with ovarian failure, General Leukodystrophy & Mitochondrial Leukoencephalopathy |