| Panel | Mode of inheritance | Details |
|---|---|---|
10 panels | ||
Green in Bardet Biedl syndromeR-numbers: R107 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet-Biedl syndrome 4, 615982 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BARDET-BIEDL SYNDROME TYPE 4 209900 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BARDET-BIEDL SYNDROME TYPE 4 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet-Biedl syndrome 4, 209900, BARDET-BIEDL SYNDROME TYPE 4 (BBS4) |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polydactyly, Bardet-Biedl syndrome 4, 615982 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet Biedl syndrome 4 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bardet Biedl syndrome 4 |
Green in Retinal disordersR-numbers: R32 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders, Bardet-Biedl syndrome 4, 615982 |
Green in Severe early-onset obesityR-numbers: R149 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Obesity, Bardet-Biedl syndrome 4, OMIM:615982 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polydactyly, Bardet-Biedl syndrome 4, 615982 |