Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SOX6-related neurodevelopmental syndrome |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Tolchin-Le Caignec syndrome, OMIM:618971, Tolchin-Le Caignec syndrome, MONDO:0033544 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes intellectual diability, ADHD, Craniosynostosis, Osteochondromas |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Tolchin-Le Caignec syndrome, OMIM:618971, craniosynostosis |