TTC8

Red TTC8 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 TTC8 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 8, OMIM:615985

Red TTC8 in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory

Green TTC8 in Limb disorders

Version 4.21
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 8, 615985

No list TTC8 in Ductal plate malformation

Version 1.29

Sources

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

Phenotypes

• Bardet-Biedl syndrome 8 (615985)

Tags

• curated_removed

Green TTC8 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 8, 615985

Red TTC8 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 TTC8 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 Review Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red TTC8 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green TTC8 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
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 8, 615985

Green TTC8 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 8 615985

Green TTC8 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• RETINITIS PIGMENTOSA TYPE 51
• BARDET-BIEDL SYNDROME TYPE 8

Green TTC8 in DDG2P

Version 3.88
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 8 209900
• RETINITIS PIGMENTOSA TYPE 51 613464

Green TTC8 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Bardet-Biedl syndrome 8, 209900Retinitis pigmentosa 51, 613464
• RETINITIS PIGMENTOSA TYPE 51 (RP51)

Green TTC8 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders
• Bardet-Biedl syndrome 8, 209900
• Retinitis pigmentosa 51, 613464
• Retinitis Pigmentosa, Recessive
• Retinitis pigmentosa
• ?Retinitis pigmentosa 51

Red TTC8 in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Retinitis pigmentosa 51, 613464
• Bardet-Biedl syndrome 8, 615985
• Eye Disorders

Green TTC8 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 8

Green TTC8 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 8

Green TTC8 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 8

No list TTC8 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 8

Tags

• curated_removed

Red TTC8 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 TTC8 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• ?Retinitis pigmentosa 51, 613464
• Bardet-Biedl syndrome 8, 615985