Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BARDET-BIEDL SYNDROME TYPE 15 209900 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BARDET-BIEDL SYNDROME TYPE 15 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BARDET-BIEDL SYNDROME TYPE 15 (BBS15) |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085, ?Bardet-Biedl syndrome 15, 615992 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Bardet-Biedl syndrome 15, 615992, Meckel syndrome, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Bardet-Biedl syndrome 15, 615992, Meckel syndrome, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 |
Green in Retinal disordersR-numbers: R32 Signed-off version 4.42 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet-Biedl syndrome 15, OMIM:615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085, ?Bardet-Biedl syndrome 15, 615992 |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ciliopathy genes associated with cystic kidney disease, ?Bardet-Biedl syndrome 15 615992 |