Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy, 250100 |
R-numbers: R58 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy, OMIM:250100, Dystonia |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy (#250100) |
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy, 250100 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARYLSULFATASE A DEFICIENCY 250100 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARYLSULFATASE A DEFICIENCY |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy (#250100), Metachromatic Leukodystrophy, 250100 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARYLSULFATASE A DEFICIENCY |
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 Metachromatic leukodystrophy |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy OMIM:250100, metachromatic leukodystrophy, juvenile form MONDO:0009591 |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Metachromatic leukodystrophy, 250100, Arylsulfatase A Deficiency |