Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
- Jeune Asphyxiating Thoracic Dystrophy
Tags
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Version 4.21
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- London South East RGC GSTT
- Viapath
Phenotypes
- Short-rib thoracic dysplasia 8 with or without polydactyly 615503
- Polydactyly
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Tags
|
Version 3.41
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
- SHORT-RIB POLYDACTYLY
- Short-rib thoracic dysplasia 8 with or without polydactyly
- Jeune syndrome
Tags
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- JEUNE SYNDROMES
- SHORT-RIB POLYDACTYLY
Tags
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- JEUNE SYNDROMES
- SHORT-RIB POLYDACTYLY
Tags
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
- SRTD8
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
Tags
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- Orphanet
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
- Jeune syndrome
- Short-rib thoracic dysplasia 8 with or without polydactyly
- SHORT-RIB POLYDACTYLY
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Expert Review Green
Phenotypes
- Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
- Short-rib thoracic dysplasia 8 with or without polydactyly
- Jeune syndrome
- SHORT-RIB POLYDACTYLY
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.22
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Expert Review Green
Phenotypes
- Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
- Short-rib thoracic dysplasia 8 with or without polydactyly
- Jeune syndrome
- SHORT-RIB POLYDACTYLY
Tags
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
Tags
|