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Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.176
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Dandy-Walker malformation
- renal dysplasia
- bone marrow failure
Tags
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Dandy-Walker malformation
- Meckel-Gruber-like syndrome
Tags
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- anhydramnios
- echogenic kidneys
- hydrocephalus
- Dandy-Walker malformation
- enlarged echogenic kidneys
Tags
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.19
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
Paediatric disorders
Rare multisystem ciliopathy Super panel
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Dandy-Walker malformation
- enlarged echogenic kidneys
- echogenic kidneys
- hydrocephalus
- anhydramnios
Tags
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Expert list
- Expert Review Red
- Expert list
Phenotypes
- Dandy-Walker malformation
- enlarged echogenic kidneys
- echogenic kidneys
- hydrocephalus
- anhydramnios
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