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
- Other
Phenotypes
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
- Jeune asphyxiating thoracic dystrophy
- JATD
Tags
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Version 5.2
Latest signed off version: v5.0
(1 May 2024)
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
- Expert Review Removed
- Victorian Clinical Genetics Services
Phenotypes
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
- Polydactyly
- Brachydactyly
Tags
- new-gene-name
- curated_removed
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Version 1.29
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
- Jeune asphyxiating thoracic dystrophy
- JATD
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
- Jeune asphyxiating thoracic dystrophy
- JATD
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
- Jeune asphyxiating thoracic dystrophy
- JATD
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- London North GLH
Tags
|
Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Tags
|