| Panel | Mode of inheritance | Details |
|---|---|---|
8 panels | ||
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile liver failure syndrome 2, OMIM:616483 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD, ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 |
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800, bone fragility, immunodeficiency, developmental delay |
Green in Retinal disordersR-numbers: R32 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800, short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 |