Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
Phenotypes
- Polycystic kidney disease 4, with or without hepatic disease 263200
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200
- MONDO:0044327
|
Version 1.29
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Polycystic kidney disease 4 with or without hepatic disease (263200)
|
Version 1.31
Latest signed off version: v1.26
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- NHS GMS
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
- Caroli disease, MONDO:0010913
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Autosomal Recessive Polycystic Kidney Disease
- Polycystic Kidney Disease, Autosomal Recessive
- Polycystic kidney and hepatic disease, 263200
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert
- UKGTN
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Polycystic kidney and hepatic disease, 263200
|
Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 3.41
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Polycystic Kidney Disease, Autosomal Recessive
- Polycystic kidney and hepatic disease, 263200
- Autosomal Recessive Polycystic Kidney Disease
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Polycystic kidney and hepatic disease, 263200
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Polycystic kidney and hepatic disease, 263200
|
Version 0.8
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert review green
- Literature
Phenotypes
- Polycystic kidney disease, autosomal recessive
- Congenital or cystic renal disease
- Nephropathy of unknown origin
- MIM 263200
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Polycystic kidney and hepatic disease, 263200
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Polycystic kidney disease 4, with or without hepatic disease, 263200
|