Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galactosialidosis, 256540 |
R-numbers: R58 Signed-off version 4.41 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GALACTOSIALIDOSIS 256540 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GALACTOSIALIDOSIS |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galactosialidosis, 256540, GALACTOSIALIDOSIS (GSL) |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galactosialidosis |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galactosialidosis OMIM:256540, galactosialidosis MONDO:0009737 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galactosialidosis 256540 |