BBS5

Red BBS5 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Green BBS5 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert list
• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Obesity
• Bardet-Biedl syndrome 5, OMIM:615983

Red BBS5 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

Sources

• Emory Genetics Laboratory

Green BBS5 in Limb disorders

Version 4.19
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly
• Bardet Biedl syndrome 5, 615983

No list BBS5 in Ductal plate malformation

Version 1.29

Sources

• Expert Review Removed
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list

Phenotypes

• Bardet-Biedl syndrome 5 (615983)

Tags

• curated_removed

Green BBS5 in Bardet Biedl syndrome

Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• NHS GMS
• Other
• Expert Review Green

Phenotypes

• Bardet Biedl syndrome 5, 615983

Red BBS5 in Cystic kidney disease

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:

Sources

• Expert Review Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red BBS5 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

Sources

• Expert
• Expert Review Red

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red BBS5 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green BBS5 in Skeletal dysplasia

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:

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Polydactyly
• Bardet Biedl syndrome 5, 615983

Green BBS5 in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• Bardet-Biedl syndrome 5 615983

Green BBS5 in Fetal anomalies

Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 5

Green BBS5 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 5 209900

Green BBS5 in Intellectual disability - microarray and sequencing

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:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Bardet-Biedl syndrome 5, 209900
• BARDET-BIEDL SYNDROME TYPE 5 (BBS5)

Green BBS5 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders
• Bardet-Biedl syndrome 5, 615983

Red BBS5 in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Bardet-Biedl syndrome5, 615983
• Eye Disorders

Green BBS5 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171

Sources

• Eligibility statement prior genetic testing
• Expert Review Green
• Expert list

Phenotypes

• Bardet‐Biedl syndrome 5

Green BBS5 in Ophthalmological ciliopathies

Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Eligibility statement prior genetic testing
• Expert list
• Expert Review Green

Phenotypes

• Bardet Biedl syndrome 5

Green BBS5 in Renal ciliopathies

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:

Sources

• Eligibility statement prior genetic testing
• Expert list
• Expert Review Green

Phenotypes

• Bardet Biedl syndrome 5

No list BBS5 in Skeletal ciliopathies

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:

Sources

• Expert Review Removed
• Eligibility statement prior genetic testing
• Expert list

Phenotypes

• Bardet Biedl syndrome 5

Tags

• curated_removed

Red BBS5 in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green BBS5 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Bardet-Biedl syndrome 5, 615983