Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Unknown
|
Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Hypertension, essential, susceptibility to}, 145500
- {Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
|
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)
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Renal tubular dysgenesis, 267430
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Renal Tubular Dysgenesis
- {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
|
Version 3.40
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
Phenotypes
- Renal Tubular Dysgenesis
- {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
- Renal tubular dysgenesis, 267430
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert Review
- Literature
Phenotypes
- Renal tubular dysgenesis, OMIM:267430
|
Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Renal tubular dysgenesis, 267430
- CAKUT
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Renal tubular dysgenesis, 267430
|