Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes WAARDENBURG |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes WAARDENBURG SYNDROME, TYPE 1 193500, CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes WAARDENBURG SYNDROME, TYPE 1, CRANIOFACIAL-DEAFNESS-HAND SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Waardenburg syndrome, type 3, 148820 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes #122880:Craniofacial-deafness-hand syndrome, #148820:Waardenburg syndrome, type 3, #193500:Waardenburg syndrome, type 1, #268220:Rhabdomyosarcoma 2, alveolar |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes WAARDENBURG SYNDROME, TYPE 1, WS3, Waardenburg syndrome, WS1, WAARDENBURG SYNDROME, TYPE 3 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Craniofacial-deafness-hand syndrome, 122880, Waardenburg syndrome, type 1, 193500, Waardenburg syndrome, type 3, 148820 |