Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
R-numbers: R56 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953, Neurodegeneration with brain iron accumulation 2B, OMIM:610217 |
R-numbers: R58 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953, Neurodegeneration with brain iron accumulation 2B, OMIM:610217 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile neuroaxonal dystrophy 1 (#256600), Parkinson disease 14 (#612953), Neurodegeneration with brain iron accumulation 2B (#610217) |
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodegeneration with brain iron accumulation 2B 610217, Parkinson disease 14, autosomal recessive 612953, Infantile neuroaxonal dystrophy 1 256600, PLA2G6-associated neurodegeneration |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 |
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 Infantile neuroaxonal dystrophy 1, OMIM:256600, neurodegeneration with brain iron accumulation 2A, MONDO:0024457, Neurodegeneration with brain iron accumulation 2B, OMIM:610217, neurodegeneration with brain iron accumulation 2B, MONDO:0012444, Parkinson disease 14, autosomal recessive, OMIM:612953, autosomal recessive Parkinson disease 14, MONDO:0013060 |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Parkinson disease 14 (#612953), Autosomal recessive Parkinson disease 14, 612953, Infantile neuroaxonal dystrophy 1 (#256600), Neurodegeneration with brain iron accumulation 2B, 610217, Neurodegeneration with brain iron accumulation 2B (#610217), Infantile neuroaxonal dystrophy 1, 256600 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile neuroaxonal dystrophy 1 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile neuroaxonal dystrophy 1, OMIM:256600, neurodegeneration with brain iron accumulation 2A, MONDO:0024457, Neurodegeneration with brain iron accumulation 2B, OMIM:610217, neurodegeneration with brain iron accumulation 2B, MONDO:0012444, Parkinson disease 14, autosomal recessive, OMIM:612953, autosomal recessive Parkinson disease 14 MONDO:0013060 |