BBS2

Red BBS2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Green BBS2 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 2.49
Latest signed off version: v2.2 (18 Feb 2020)

Sources

• Expert list
• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Obesity
• Bardet-Biedl syndrome 2, OMIM:615981

Red BBS2 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.18

Sources

• Emory Genetics Laboratory

Green BBS2 in Limb disorders

Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly
• Bardet-Biedl syndrome 2, 615981

No list BBS2 in Ductal plate malformation

Version 1.19

Sources

• Expert Review Removed
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• Bardet-Biedl syndrome 2 (615981)

Tags

• curated_removed

Green BBS2 in Bardet Biedl syndrome

Version 1.13
Latest signed off version: v1.2 (18 Feb 2020)

Sources

• NHS GMS
• Other
• Expert Review Green

Phenotypes

• Bardet-Biedl syndrome 2, 615981

Red BBS2 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.53
Latest signed off version: v2.2 (19 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red BBS2 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.113

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red BBS2 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.40

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green BBS2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Polydactyly
• Bardet-Biedl syndrome 2, 615981

Green BBS2 in Unexplained paediatric onset end-stage renal disease

Version 1.37
Latest signed off version: v1.2 (4 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• Bardet-Biedl syndrome 2 615981

Green BBS2 in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 2

Green BBS2 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 2 209900

Green BBS2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

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

Phenotypes

• Bardet-Biedl syndrome 2, 209900
• BARDET-BIEDL SYNDROME TYPE 2 (BBS2)

Green BBS2 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders
• Bardet-Biedl syndrome 2, 615981
• Retinitis pigmentosa 74, 616562

Red BBS2 in Structural eye disease

Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Retinitis pigmentosa 74, 616562
• Bardet-Biedl syndrome2, 615981
• Eye Disorders

Green BBS2 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.160

Sources

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

Phenotypes

• Bardet‐Biedl syndrome 2

Green BBS2 in Ophthalmological ciliopathies

Version 1.30
Latest signed off version: v1.3 (19 Feb 2020)

Component of the following Super Panels:

Sources

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

Phenotypes

• Bardet Biedl syndrome 2

Green BBS2 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.64
Latest signed off version: v1.2 (4 Mar 2020)

Component of the following Super Panels:

Sources

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

Phenotypes

• Bardet Biedl syndrome 2

No list BBS2 in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.17
Latest signed off version: v1.2 (19 Feb 2020)

Component of the following Super Panels:

Sources

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

Phenotypes

• Bardet Biedl syndrome 2

Tags

• curated_removed

Red BBS2 in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green BBS2 in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Bardet-Biedl syndrome 2, 615981
• Retinitis pigmentosa 74, 616562