Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
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
- NHS GMS
- Expert Review Green
- Expert
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
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
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
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 3.42
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 Green
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Nephronophthisis-like nephropathy 1, 613159
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
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
- Victorian Clinical Genetics Services
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
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
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|