Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Orofaciodigital syndrome XV, OMIM:617127, Orofaciodigital syndrome XV, MONDO:0014932 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Orofaciodigital syndrome XV 617127 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib skeletal dysplasia, ?Orofaciodigital syndrome XV 617127, Joubert syndrome |