| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stickler syndrome, type IV, OMIM:614134 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes STICKLER SYNDROME TYPE 4 614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes STICKLER SYNDROME TYPE 4, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.42 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stickler syndrome, type IV, OMIM:614134, Hearing loss |
Green in Retinal disordersR-numbers: R32 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stickler syndrome, type IV, OMIM:614134 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Stickler syndrome, type IV, OMIM:614134, Epiphyseal dysplasia, multiple, 6, OMIM:614135 |
Green in Stickler syndromeR-numbers: R45 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stickler syndrome, type IV, OMIM:614134 |