Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ACROCAPITOFEMORAL DYSPLASIA 607778, BRACHYDACTYLY, TYPE A1 112500 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500 |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Syndactyly, type 1, with or without craniosynostosis, OMIM:185900, Chr2q35dup syndrome |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500 |