Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R56 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230 |
R-numbers: R60 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Dystonia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia |
R-numbers: R58 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230, Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910, Spastic paraplegia |
R-numbers: R57 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Dopa-Responsive Dystonia (DRD), Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, GTP-cyclohydrolase deficiency |
R-numbers: R61 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Dystonia, progressive spastic paraplegia, Spastic paraplegia |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes DYSTONIA TYPE 5 128230, GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910, DYSTONIA TYPE 5 (DYT5) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia |