Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MECKEL SYNDROME TYPE 5 611561, JOUBERT SYNDROME TYPE 7 611560, COACH SYNDROME 216360 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MECKEL SYNDROME TYPE 5, COACH SYNDROME, JOUBERT SYNDROME TYPE 7 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360, COACH SYNDROME (COACHS) |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COACH syndrome, Joubert syndrome 7, Meckel syndrome 5, Eye Disorders |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COACH syndrome 216360, Meckel syndrome 5 611561, Joubert syndrome 7 611560 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COACH syndrome, 216360 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome 5 611561, Ciliopathy genes associated with cystic kidney disease, COACH syndrome 216360, Joubert syndrome 7 611560 |