Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Multiple epiphyseal dysplasiais
- Stickler syndrome, type I, 108300
- Kniest dysplasia, 156550
- Achondrogenesis, type II or hypochondrogenesis, 200610
- SED congenita, 183900
- SMED Strudwick type, 184250
- Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
- Spondyloperipheral dysplasia, 271700
- SED, Namaqualand type
- Osteoarthritis with mild chondrodysplasia, 604864
- Vitreoretinopathy with phalangeal epiphyseal dysplasia
- Platyspondylic skeletal dysplasia, Torrance type, 151210
- Otospondylomegaepiphyseal dysplasia, 215150
- Avascular necrosis of the femoral head, 608805
- Legg-Calve-Perthes disease, 150600
- Stickler sydrome, type I, nonsyndromic ocular, 609508
- Czech dysplasia, 609162
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Version 0.64
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- ClinGen
- Expert Review Amber
- Other
Phenotypes
- Spondyloepiphyseal dysplasia (Stanescu type)
- OMIM 616583
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
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review
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Not set
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Sources
- Expert Review Amber
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
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Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Achondrogenesis, type II or hypochondrogenesis, MIM#200610
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Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Other
Phenotypes
- Platyspondylic skeletal dysplasia, Torrance type 151210
- Achondrogenesis, type II or hypochondrogenesis 200610
- Spondyloperipheral dysplasia 271700
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.9
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Confirmed DD gene for Stickler syndrome type I non-syndromic ocular
- Stickler syndrome
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.176
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Avascular necrosis of the femoral head
- feature of hereditary thrombophilia
- Legg-Calve-Perthes disease
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.3
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Stickler syndrome, type I, OMIM:108300
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- South West GLH
- South West GLH
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Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- South West GLH
- Expert list
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
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
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Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- NHS GMS
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Emory Genetics Laboratory
Phenotypes
- Stickler syndrome, type I, 108300
- Connective Tissue Disorders
- Kniest dysplasia, 156550
- Achondrogenesis, type II or hypochondrogenesis, 200610
- SED congenita, 183900
- SMED Strudwick type, 184250
- Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Tags
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
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
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Stickler syndrome, type I, 108300
- Kniest dysplasia, 156550
- Achondrogenesis, type II or hypochondrogenesis, 200610
- SED congenita, 183900
- SMED Strudwick type, 184250
- Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
- Spondyloperipheral dysplasia, 271700
- SED, Namaqualand type
- Osteoarthritis with mild chondrodysplasia, 604864
- Vitreoretinopathy with phalangeal epiphyseal dysplasia
- Platyspondylic skeletal dysplasia, Torrance type, 151210
- Otospondylomegaepiphyseal dysplasia, 215150
- Avascular necrosis of the femoral head, 608805
- Legg-Calve-Perthes disease, 150600
- Stickler sydrome, type I, nonsyndromic ocular, 609508
- Czech dysplasia, 609162
- Disproportionate Short Stature
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
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
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
Phenotypes
- Stickler syndrome, type I, OMIM:108300
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
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
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Stickler syndrome, type I, 108300
- Kniest dysplasia, 156550
- Achondrogenesis, type II or hypochondrogenesis, 200610
- SED congenita, 183900
- SMED Strudwick type, 184250
- Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
- Spondyloperipheral dysplasia, 271700
- SED, Namaqualand type
- Osteoarthritis with mild chondrodysplasia, 604864
- Vitreoretinopathy with phalangeal epiphyseal dysplasia
- Platyspondylic skeletal dysplasia, Torrance type, 151210
- Otospondylomegaepiphyseal dysplasia, 215150
- Avascular necrosis of the femoral head, 608805
- Legg-Calve-Perthes disease, 150600
- Stickler sydrome, type I, nonsyndromic ocular, 609508
- Czech dysplasia, 609162
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
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
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Epiphyseal dysplasia, multiple, with myopia and deafness
- Eye Disorders
- SED congenita
- Kniest dysplasia, 156550
- Stickler syndrome, type I, 108300
- Stickler sydrome, type I, nonsyndromic ocular, 609508
- Vitreoretinopathy with phalangeal epiphyseal dysplasia
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Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Achondrogenesis, type II or hypochondrogenesis, 200610
- Spondyloperipheral dysplasia, 271700
- SMED Strudwick type, 184250
- Stickler sydrome, type I, nonsyndromic ocular, 609508
- Vitreoretinopathy with phalangeal epiphyseal dysplasia
- Kniest dysplasia, 156550
- SED congenita, 183900
- Czech dysplasia, 609162
- Platyspondylic skeletal dysplasia, Torrance type, 151210
- Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
- Spondyloepiphyseal dysplasia, Stanescu type, 616583
- Osteoarthritis with mild chondrodysplasia, 604864
- Legg-Calve-Perthes disease, 150600
- Stickler syndrome, type I, 108300
- Avascular necrosis of the femoral head, 608805
|