Version 1.10
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
Not set
|
Sources
- Expert Review Green
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.19
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- London South East RGC GSTT
- Viapath
Phenotypes
- COACH syndrome 216360
- Joubert syndrome 6 610688
- Meckel syndrome 3 607361
- {Bardet-Biedl syndrome 14, modifier of} 615991
- Polydactyly
|
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- NHS GMS
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- COACH syndrome (216360)
- {Bardet-Biedl syndrome 14, modifier of} (615991)
- Nephronophthisis 11 (613550)
- Meckel syndrome 3 (607361)
- Joubert syndrome 6 (310688)
- congenital hepatic fibrosis
Tags
|
Version 1.28
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Meckel syndrome 3 (607361)
- Nephronophthisis 11 (613550)
- Joubert syndrome 6 (310688)
- {Bardet-Biedl syndrome 14, modifier of} (615991)
- COACH syndrome (216360)
- congenital hepatic fibrosis
|
Version 1.31
Latest signed off version: v1.26
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Joubert syndrome 6 (310688)
- {Bardet-Biedl syndrome 14, modifier of} (615991)
- Meckel syndrome 3 (607361)
- Nephronophthisis 11 (613550)
- congenital hepatic fibrosis
- COACH syndrome (216360)
|
Version 2.4
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Other
- Expert Review Green
Phenotypes
- {Bardet-Biedl syndrome 14, modifier of}, 615991
|
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
- NHS GMS
- Expert Review Green
Phenotypes
- ?RHYNS syndrome MIM 602152
- COACH syndrome 216360 AR 3
- {Bardet-Biedl syndrome 14, modifier of} MIM 615991
- ?RHYNS syndrome 602152 AR 3
- COACH syndrome, MIM 216306
- Joubert syndrome 6, MIM 610688
- Nephronopthisis 11 MIM 613550
- Meckel syndrome 3, MIM 607361
|
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
- Expert
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
|
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
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert
Phenotypes
- COACH syndrome 216360
- Joubert syndrome 6 610688
- Meckel syndrome 3 607361
- Nephronophthisis 11 613550
- {Bardet-Biedl syndrome 14, modifier of} 615991
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Other
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- COACH syndrome, 216360
- Joubert syndrome 6
|
Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.41
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Emory Genetics Laboratory
Phenotypes
- COACH syndrome 216360
- Meckel syndrome 3 607361
- Joubert syndrome 6 610688
- {Bardet-Biedl syndrome 14, modifier of} 615991
|
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
Phenotypes
- Joubert syndrome 6 610688
- Nephronophthisis 11 613550
- Meckel syndrome 3 607361
- Ciliopathy genes associated with cystic kidney disease
- {Bardet-Biedl syndrome 14, modifier of} 615991
- COACH syndrome 216360
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- JOUBERT SYNDROME TYPE 6
- MECKEL SYNDROME TYPE 3
- COACH SYNDROM
- NEPHRONOPHTHISIS TYPE 11
|
Version 3.79
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
- NEPHRONOPHTHISIS TYPE 11 613550
- MECKEL SYNDROME TYPE 3 607361
- COACH SYNDROM 216360
- JOUBERT SYNDROME TYPE 6 610688
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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 Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550
- COACH SYNDROME(COACHS)
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- COACH syndrome, 216360
- Joubert syndrome 6, 610688
- {Bardet-Biedl syndrome 14, modifer of}, 615991
- Meckel syndrome 3, 607361
- COACH syndrome, 216360
- Nephronophthisis 11, 613550
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.169
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Eligibility statement prior genetic testing
- Other
- Orphanet
- Expert Review Green
- Expert list
Phenotypes
- Meckel-Gruber syndrome
- Joubert syndrome
- COACH syndrome
- nephronophthisis
- ?Bardet-Biedl syndrome?
- 216360
- 607361
- 613550
- 610688
- Meckel syndrome
- Senior-Boichis syndrome
- Nephronophthisis 11
- Joubert syndrome 6
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Orphanet
- Eligibility statement prior genetic testing
- Expert list
- Expert Review Green
- Other
Phenotypes
- Joubert syndrome
- nephronophthisis
- COACH syndrome
- Joubert syndrome 6
- ?Bardet-Biedl syndrome?
- Senior-Boichis syndrome
- 613550
- 607361
- Meckel-Gruber syndrome
- Meckel syndrome
- 610688
- Nephronophthisis 11
- 216360
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.18
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome
- nephronophthisis
- COACH syndrome
- Joubert syndrome 6
- ?Bardet-Biedl syndrome?
- Senior-Boichis syndrome
- 613550
- 607361
- Meckel-Gruber syndrome
- Meckel syndrome
- 610688
- Nephronophthisis 11
- 216360
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.4
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
- Orphanet
- Eligibility statement prior genetic testing
- Expert list
- Expert Review Green
- Other
Phenotypes
- Joubert syndrome
- nephronophthisis
- COACH syndrome
- Joubert syndrome 6
- ?Bardet-Biedl syndrome?
- Senior-Boichis syndrome
- 613550
- 607361
- Meckel-Gruber syndrome
- Meckel syndrome
- 610688
- Nephronophthisis 11
- 216360
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Red
- London North GLH
Phenotypes
- 613550
- 607361
- Joubert syndrome
- ?Bardet-Biedl syndrome?
- COACH syndrome
- 216360
- Joubert syndrome 6
- Meckel-Gruber syndrome
- Meckel syndrome
- nephronophthisis
- Senior-Boichis syndrome
- 610688
- Nephronophthisis 11
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Joubert syndrome 6, 610688
- Meckel syndrome 3, 607361
- Nephronophthisis 11, 613550
- ?RHYNS syndrome, 602152
- COACH syndrome, 216360
|