| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in Adult onset movement disorderR-numbers: R56 Signed-off version 2.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ?Spastic paraplegia 43, autosomal recessive OMIM:615043, hereditary spastic paraplegia 43 MONDO:0014024, Neurodegeneration with brain iron accumulation 4 OMIM:614298, neurodegeneration with brain iron accumulation 4 MONDO:0013674 |
R-numbers: R57 Signed-off version 2.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes neurodegeneration with brain iron accumulation-4, 614298, mitochondrial membrane protein-associated neurodegeneration, Dystonia |
R-numbers: R60 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298 |
R-numbers: R61 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism), Neurodegeneration with brain iron accumulation 4, 614298, Mitochondrial Membrane Protein-Associated Neurodegeneration |
R-numbers: R58 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dystonia, neurodegeneration with brain iron accumulation-4, OMIM:614298 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298 |