Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 |
R-numbers: R61 Signed-off version 4.28 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 4 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR), Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR), Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) |
R-numbers: R63 Signed-off version 3.69 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR), Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) |
Component of the following Super Panels:
Signed-off version 3.24 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 |