Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.36
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Bartter syndrome, type 3, 607364
- Type 3 Bartter syndrome
- Bartter syndrome, type 4b, digenic, 613090
- BARTTER SYNDROME TYPE 4B
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Version 1.19
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Bartter syndrome, type 3 (607364)
- Bartter syndrome, type 4b, digenic (613090)
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Version 1.880
Latest signed off version: v1.92
(21 Aug 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
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Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
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 Amber
Phenotypes
- BARTTER SYNDROME TYPE 4B 613090
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.62
Latest signed off version: v2.23
(16 Oct 2020)
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
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Bartter syndrome, type 3, OMIM:607364
- Bartter syndrome, type 4b, digenic, OMIM:613090
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Bartter syndrome, type 3, 607364Bartter syndrome, type 4b, digenic, 613090
- BARTTER SYNDROME TYPE 4B
Tags
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