| Panel | Mode of inheritance | Details |
|---|---|---|
8 panels | ||
R-numbers: R31 Signed-off version 5.4 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Marshall Syndrome, OMIM:154780, Stickler syndrome, type II, OMIM:604841 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Marshall Syndrome, OMIM:154780, Stickler syndrome, type II, OMIM:604841 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes STICKLER SYNDROME, TYPE II 604841, FIBROCHONDROGENESIS 228520 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes FIBROCHONDROGENESIS, STICKLER SYNDROME, TYPE II |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.51 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Deafness, autosomal dominant 37, OMIM:618533, Stickler syndrome, type II, OMIM:604841 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.16 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Stickler syndrome, type II, OMIM:604841, Marshall syndrome, OMIM:154780 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Stickler syndrome, type II, OMIM:604841, Marshall syndrome, OMIM:154780, Fibrochondrogenesis 1, OMIM:228520 |
Green in Stickler syndromeR-numbers: R45 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Stickler syndrome, type II, OMIM:604841, Marshall syndrome, OMIM:154780 |