Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0
(22 Mar 2023)
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, OMIM:607364
- Bartter disease type 3, MONDO:0011822
- Bartter syndrome, type 4b, digenic, OMIM:613090
- Bartter disease type 4B, MONDO:0000909
Tags
- monogenic-polygenic
- Q3_23_MOI
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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
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Bartter syndrome, type 3, OMIM:607364
- Bartter disease type 3, MONDO:0011822
- Bartter syndrome, type 4b, digenic, OMIM:613090
- Bartter disease type 4B, MONDO:0000909
Tags
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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
- NHS GMS
Phenotypes
- Bartter syndrome, type 3, OMIM:607364
- Bartter disease type 3, MONDO:0011822
Tags
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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
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Bartter syndrome, type 3, OMIM:607364
- Bartter disease type 3, MONDO:0011822
- Bartter syndrome, type 4b, digenic, OMIM:613090
- Bartter disease type 4B, MONDO:0000909
Tags
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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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- BARTTER SYNDROME TYPE 4B 613090
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
Latest signed off version: v4.0
(22 Mar 2023)
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 disease type 3, MONDO:0011822
- Bartter syndrome, type 4b, digenic, OMIM:613090
- Bartter disease type 4B, MONDO:0000909
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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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, OMIM:607364
- Bartter disease type 3, MONDO:0011822
- Bartter syndrome, type 4b, digenic, OMIM:613090
- Bartter disease type 4B, MONDO:0000909
Tags
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