Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LMNB1-associated developmental disorder |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179 |
Component of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 |