Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome, Joubert syndrome 24, Joubert syndrome, Meckel-Gruber syndrome |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome, Joubert syndrome 24, Joubert syndrome, Meckel-Gruber syndrome |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome, Joubert syndrome 24, Joubert syndrome, Meckel-Gruber syndrome |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 24 616654, Meckel syndrome 8 613885 |
R-numbers: R257 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome, Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 24 |