| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
R-numbers: R56 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Neurodegeneration with brain iron accumulation 5, OMIM:300894 |
R-numbers: R58 Signed-off version 6.6 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Dystonia, Neurodegeneration with brain iron accumulation 5, OMIM:300894 |
R-numbers: R57 Signed-off version 5.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Neurodegeneration with brain iron accumulation 5 300894, beta-propeller protein-associated neurodegeneration, Dystonia |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Neurodegeneration with brain iron accumulation 5, 300894 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Neurodegeneration with brain iron accululation 5, 300894, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Neurodegeneration with brain iron accumulation 5 |