Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Acute rhabdomyolysisR-numbers: R419 Signed-off version 1.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
Component of the following Super Panels:
Signed-off version 3.39 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 |