Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in Bardet Biedl syndromeR-numbers: R107 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet Biedl syndrome 12, 615989 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BARDET-BIEDL SYNDROME TYPE 12 209900 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BARDET-BIEDL SYNDROME TYPE 12 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet-Biedl syndrome 12, 209900, BARDET-BIEDL SYNDROME TYPE 12 (BBS12) |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polydactyly, Bardet Biedl syndrome 12, 615989 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet Biedl syndrome 12 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet Biedl syndrome 12 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders, Bardet-Biedl syndrome 12, 615989 |
Green in Severe early-onset obesityR-numbers: R149 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes obesity, Bardet-Biedl syndrome 12, OMIM:615989 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polydactyly, Bardet Biedl syndrome 12, 615989 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 12 615989 |