Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Stickler syndrome, type III, 184840
- Otospondylomegaepiphyseal dysplasia, 215150
- Weissenbacher-Zweymuller syndrome, 277610
- Deafness, autosomal dominant 13, 601868
- Deafness, autosomal recessive 53, 609706
- Fibrochondrogenesis 2, 614524
- Otospondylomegaepiphyseal Dysplasia
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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
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.3
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840
- Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Stickler syndrome, type III 184840
- Otospondylomegaepiphyseal dysplasia 215150
- Fibrochondrogenesis 2 614524?
- Fibrochondrogenesis 2 614524
- Weissenbacher-Zweymuller syndrome 277610
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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
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Removed
- NHS GMS
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Stickler syndrome, type III, (AD),184840
- Otospondylomegaepiphyseal dysplasia,(AR) 215150
- Weissenbacher-Zweymuller syndrome, (AD), 277610
- Fibrochondrogenesis 2, (AR,AD), 614524
- Connective Tissue Disorders
- autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840
- autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Tags
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- WEISSENBACHER-ZWEYMUELLER SYNDROME
- DEAFNESS AUTOSOMAL RECESSIVE TYPE 53
- AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
- DEAFNESS AUTOSOMAL DOMINANT TYPE 13
- STICKLER SYNDROME TYPE 3
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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
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Sources
- NHS GMS
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
- Stickler Syndrome, Type III
- Otospondylomegaepiphyseal dysplasia 184840
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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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- WEISSENBACHER-ZWEYMUELLER SYNDROME 184840
- AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150
- DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868
- STICKLER SYNDROME TYPE 3 184840
- DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
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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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- hearing loss
- #184840:Stickler syndrome, type III
- #215150:Otospondylomegaepiphyseal dysplasia
- #277610:Weissenbacher-Zweymuller syndrome
- #601868:Deafness, autosomal dominant 13
- #609706:Deafness, autosomal recessive 53
- #614524: Fibrochondrogenesis 2
- Nonsyndromic Hearing Loss, Dominant
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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
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Sources
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
Phenotypes
- Stickler syndrome, type III
- STICKLER SYNDROME, NONOCULAR TYPE
- OSMED
- STL3
- Non-ocular Stickler syndrome
- 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
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Gene2Phenotype confirmed gene with ID HPO
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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Not set
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Sources
- NHS GMS
- Expert Review Red
Phenotypes
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
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Version 1.182
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Fibrochondrogenesis 2, 614524
- Deafness, autosomal dominant 13, 601868
- Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840
- Deafness, autosomal recessive 53, 609706
- Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150
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