Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R229, R258 Signed-off version 2.5 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Fanconi anemia, complementation group R, OMIM:617244 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Fanconi anaemia, complementation group R, OMIM:617244 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Fanconi anemia, complementation group R, OMIM:617244 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Fanconi anemia, complementation group R, OMIM:617244 |