| Panel | Mode of inheritance | Details |
|---|---|---|
9 panels | ||
R-numbers: R31 Signed-off version 4.14 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Confirmed DD gene for Stickler syndrome type I non-syndromic ocular, Stickler syndrome |
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes STICKLER SYNDROME, TYPE I (STL1), 108300, Orofacial Clefting with skeletal features, Stickler Syndrome, Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss), Stickler sydrome, type I, non syndromic ocular, STICKLER SYNDROME, VITREOUS TYPE 1, STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE, ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM, STICKLER SYNDROME, TYPE I, STL1, Cleft palate |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ACHONDROGENESIS TYPE 2 200610, PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210, SPONDYLOPERIPHERAL DYSPLASIA 271700, PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900, RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508, KNIEST DYSPLASIA 156550, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE, ACHONDROGENESIS TYPE 2, RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, KNIEST DYSPLASIA |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Platyspondylic skeletal dysplasia, Torrance type 151210, Achondrogenesis, type II or hypochondrogenesis 200610, Spondyloperipheral dysplasia 271700 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.42 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Stickler syndrome, type I, OMIM:108300 |
Green in Retinal disordersR-numbers: R32 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450, Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248, Kniest dysplasia, OMIM:156550, SED congenita, OMIM:183900, Stickler syndrome, type I, OMIM:108300, Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508 |
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 Epiphyseal dysplasia, multiple, with myopia and deafness 132450, Spondyloepiphyseal dysplasia, Stanescu type 616583, Stickler sydrome, type I, nonsyndromic ocular 609508, Achondrogenesis, type II or hypochondrogenesis 200610, Kniest dysplasia 156550, Legg-Calve-Perthes disease 150600, Otospondylomegaepiphyseal dysplasia 215150, Stickler syndrome, type I 108300, SMED Strudwick type 184250, Spondyloperipheral dysplasia 271700, Platyspondylic skeletal dysplasia, Torrance type 151210, Czech dysplasia 609162, SED congenita 183900, Osteoarthritis with mild chondrodysplasia 604864, Avascular necrosis of the femoral head 608805 |
Green in Stickler syndromeR-numbers: R45 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Stickler syndrome, type I, OMIM:108300 |