Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in Bardet Biedl syndromeR-numbers: R107 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Senior-Loken syndrome 7, 613615, Bardet-Biedl syndrome 16, 615993 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SENIOR-LOKEN SYNDROME 7 613615 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SENIOR-LOKEN SYNDROME 7 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Senior-Loken syndrome 7, 613615, Bardet-Biedl syndrome 16, 615993, Intellectual disability |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SENIOR-LOKEN SYNDROME, Bardet-Biedl Syndrome, 613615, Senior-Loken syndrome |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SENIOR-LOKEN SYNDROME, Bardet-Biedl Syndrome, 613615, Senior-Loken syndrome |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders |
Green in Severe early-onset obesityR-numbers: R149 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Obesity, Bardet-Biedl syndrome 16, OMIM:615993 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 16 615993, Senior-Loken syndrome 7 613615 |