Version 1.11
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Literature
Phenotypes
- Bartter syndrome, type 1, OMIM:601678
- Bartter disease type 1, MONDO:0100344
Tags
|
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Bartter syndrome, type 1, OMIM:601678
- Bartter disease type 1, MONDO:0100344
Tags
|
Version 3.39
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Bartter syndrome, type 1, OMIM:601678
- Bartter disease type 1, MONDO:0100344
Tags
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Bartter syndrome, type 1, OMIM:601678
- Bartter disease type 1, MONDO:0100344
Tags
|
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Bartter syndrome, type 1, OMIM:601678
- Bartter disease type 1, MONDO:0100344
Tags
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Bartter syndrome, type 1, OMIM:601678
- Bartter disease type 1, MONDO:0100344
Tags
|