Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119
Component of the following Super Panels:
Renal superpanel - broad
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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
- Expert Review
Phenotypes
- Urofacial syndrome 1 236730
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Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.177
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 Green
- Expert Review
Phenotypes
- Urofacial Syndrome
- Congenital bladder disease: dyssynergic, high pressure bladder
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Renal superpanel - broad
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review Green
Phenotypes
- Congenital bladder disease: dyssynergic, high pressure bladder
- Urofacial syndrome 1 236730
- Urofacial Syndrome
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
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Version 4.3
Latest signed off version: v4.0
(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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- UROFACIAL SYNDROME 236730
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Urofacial syndrome 1, 236730
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Urofacial syndrome 1, 236730
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