Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cornelia de Lange syndrome 4, OMIM:614701 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes COHESINOPATHY 614701 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes COHESINOPATHY |
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Children to Lymphoblastic Leukemia or Lymphoma |
Green in Holoprosencephaly - NOT chromosomalComponent of the following Super Panels:
R-numbers: R85 Signed-off version 4.11 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cornelia de Lange syndrome 4, OMIM:614701, Holoprosencephaly with or without CdLS features, Septo-optic dysplasia |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cornelia de Lange syndrome 4, OMIM:614701 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 5.7 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cornelia de Lange syndrome 4, 614701 (includes microcephaly) |