Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R56 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Parkinson disease 20, early-onset, OMIM:615530 |
R-numbers: R58 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Parkinson disease 20, early-onset, OMIM:615530 |
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Parkinson disease 20, early-onset, 615530, juvenile Parkinsonism |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 53, 617389 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes early onset refractory seizures and progressive neurological decline, Epileptic encephalopathy, early infantile, 53, 617389 |