Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 1.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome 13 617562, ?Joubert syndrome 29 617562, Orofaciodigital syndrome XVI 617563 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome 13, 617562, ?Joubert syndrome 29, 617562, Orofaciodigital syndrome XVI, 617563 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome 13 617562, ?Joubert syndrome 29 617562, Orofaciodigital syndrome XVI 617563 |
R-numbers: R257 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Joubert syndrome 29 617562, Meckel syndrome 13 617562, Orofaciodigital syndrome XVI 617563 |