Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Obesity
- Bardet-Biedl syndrome 3, OMIM:600151
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 4.19
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
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 3 600151
|
Version 1.29
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- {Bardet-Biedl syndrome 1, modifier of} (209900)
- Bardet-Biedl syndrome 3 (600151)
Tags
|
Version 2.4
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Other
- Expert Review Green
Phenotypes
- ?Retinitis pigmentosa 55, 613575
- {Bardet Biedl syndrome 1, modifier of}, 209900
- Bardet Biedl syndrome 3, 600151
|
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
|
Not set
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
|
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
|
Not set
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
|
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 4.57
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
- Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 3 600151
|
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
- Ciliopathy genes associated with cystic kidney disease
- Bardel-Biedl syndrome type 3 600151
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 3
- RETINITIS PIGMENTOSA TYPE 55
|
Version 3.87
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
- RETINITIS PIGMENTOSA TYPE 55 613575
- BARDET-BIEDL SYNDROME TYPE 3 209900
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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 Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575
- BARDET-BIEDL SYNDROME TYPE 3 (BBS3)
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Eye Disorders
- Bardet-Biedl syndrome 3, 209900
- {Bardet-Biedl syndrome 1, modifier of}, 209900
- Retinitis pigmentosa 55, 613575
- Retinitis Pigmentosa, Recessive
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Bardet-Biedl syndrome 3, 600151
- {Bardet-Biedl syndrome 1, modifier of} 209900
- Retinitis pigmentosa 55, 613575
- Eye Disorders
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
Phenotypes
- {Bardet‐Biedl syndrome 1, modifier of}
- Bardet‐Biedl syndrome 3
- Bardet-Biedl Syndrome
- 268000
|
Version 3.6
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
- Eligibility statement prior genetic testing
- Expert list
- Expert Review Green
Phenotypes
- {Bardet Biedl syndrome 1, modifier of}
- Bardet-Biedl Syndrome
- 268000
- Bardet Biedl syndrome 3
|
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
- Eligibility statement prior genetic testing
- Expert list
- Expert Review Green
Phenotypes
- {Bardet Biedl syndrome 1, modifier of}
- Bardet-Biedl Syndrome
- 268000
- Bardet Biedl syndrome 3
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.22
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- Eligibility statement prior genetic testing
- Expert list
Phenotypes
- {Bardet Biedl syndrome 1, modifier of}
- Bardet-Biedl Syndrome
- 268000
- Bardet Biedl syndrome 3
Tags
|
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
- Bardet-Biedl syndrome 3, 600151
|