|
Version 1.29
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Renal tubular dysgenesis (267430)
|
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Renal tubular dysgenesis MIM 267430
- Familial juvenile Hyperuricemic nephropathy-2 MIM 613092
|
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Hyperuricemic nephropathy, familial juvenile 2 613092
- Renal tubular dysgenesis 267430
- [Hyperproreninemia]
|
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.175
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Renal Tubular Dysgenesis
- [Hyperproreninemia]
|
|
Version 3.40
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
Phenotypes
- Renal Tubular Dysgenesis
- Renal tubular dysgenesis 267430
- [Hyperproreninemia]
- Hyperuricemic nephropathy, familial juvenile 2613092
|
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Renal tubular dysgenesis 267430
|
|
Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- CAKUT
- [Hyperproreninemia]
- Hyperuricemic nephropathy, familial juvenile 2, 613092
- Renal tubular dysgenesis, 267430
|
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Hyperuricemic nephropathy, familial juvenile 2, 613092
- Renal tubular dysgenesis 267430 AR
|
|
Version 0.8
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert review red
- Literature
Phenotypes
- Tubulointerstitial disease
- MIM 613092
- Autosomal dominant tubulointerstitial kidney disease, REN-associated
|
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hyperuricemic nephropathy, familial juvenile 2, 613092
- Renal tubular dysgenesis, 267430
|