TTC21B

Red TTC21B 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 TTC21B in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert Review

Phenotypes

• Hypertension
• focal segmental glomerulosclerosis
• nephronopthisis
• myopia
• Nephronophthisis 12, OMIM:613820

Green TTC21B in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Asphyxiating Thoracic Dystrophy
• Nephronophthisis 12, 613820

No list TTC21B in Limb disorders

Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly

Tags

• curated_removed

No list TTC21B in Ductal plate malformation

Version 1.29

Sources

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

Phenotypes

• Nephronophthisis 12 (613820)

Tags

• curated_removed

Green TTC21B in Tubulointerstitial kidney disease

Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Nephronopthisis 12, OMIM:613820

Green TTC21B 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 Green
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Tags

• watchlist_moi

Green TTC21B 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 Green
• UKGTN
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Expert

Phenotypes

• Nephronophthisis 12 613820

Tags

• watchlist_moi

Red TTC21B in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green TTC21B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory

Phenotypes

• Nephronophthisis 12, 613820
• Asphyxiating Thoracic Dystrophy
• SRTD4

Green TTC21B in Unexplained young onset end-stage renal disease

Version 3.42
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Nephronophthisis 12 613820
• Ciliopathy genes associated with cystic kidney disease

Green TTC21B in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Short-rib thoracic dysplasia 4 with or without polydactyly 613819

Amber TTC21B in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.111
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber

Phenotypes

• SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
• SRTD4

Amber TTC21B 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

• Expert Review Amber
• NHS GMS

Phenotypes

• Retinal dystrophy, HP:0000556

Tags

• Q1_24_promote_green
• Q1_24_NHS_review

Red TTC21B in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819
• Eye Disorders

Green TTC21B in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172

Sources

• Expert Review Green
• Other
• Orphanet
• UKGTN
• Emory Genetics Laboratory
• Expert list

Phenotypes

• Nephronophthisis
• Nephronophthisis 12, 613820
• Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
• Jeune syndrome
• Short-rib thoracic dysplasia 4 with or without polydactyly

Tags

• watchlist_moi

Red TTC21B in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS

Phenotypes

• Nephronophthisis 12 # 613820

Red TTC21B in Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Sources

• Expert Review Red
• Expert review red
• Literature

Phenotypes

• Nephropathy of unknown origin
• Nephronophthisis 12
• MIM 613820

Green TTC21B 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

• Expert Review Green
• Orphanet
• UKGTN
• Expert list
• Other
• Emory Genetics Laboratory

Phenotypes

• Nephronophthisis 12, 613820
• Short-rib thoracic dysplasia 4 with or without polydactyly
• Jeune syndrome
• Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
• Nephronophthisis

Tags

• watchlist_moi

Green TTC21B in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.23
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Orphanet
• UKGTN
• Expert list
• Other
• Emory Genetics Laboratory

Phenotypes

• Nephronophthisis 12, 613820
• Short-rib thoracic dysplasia 4 with or without polydactyly
• Jeune syndrome
• Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
• Nephronophthisis

Red TTC21B in Childhood onset dystonia, chorea or related movement disorder

Version 3.78
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green TTC21B in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
• Nephronophthisis 12, 613820