1. Genes and Genomic Entities
  2. TTC21B

TTC21B

tetratricopeptide repeat domain 21B
OMIM: 612014, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Red TTC21B in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
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 1.23

review BIALLELIC, autosomal or pseudoautosomal
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 1.24

review BIALLELIC, autosomal or pseudoautosomal
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


Level 2: Musculoskeletal
Version 7.25
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    Tags
    • curated_removed
    No list TTC21B in Ductal plate malformation


    Version 1.31

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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


    Level 2: Renal
    Version 3.15
    Latest signed off version: v3.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Nephronopthisis 12, OMIM:613820
    Green TTC21B in Cystic kidney disease


    Level 2: Renal
    Version 8.8
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 1.125

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert
    Phenotypes
    • Nephronophthisis 12 613820
    Tags
    • watchlist_moi
    Red TTC21B in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Green TTC21B in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.40
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Short-rib thoracic dysplasia 4 with or without polydactyly 613819
    Amber TTC21B in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
    • SRTD4
    Green TTC21B in Retinal disorders


    Level 2: Ophthalmology
    Version 8.116
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Retinal dystrophy, HP:0000556
    Red TTC21B in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    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 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    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 2: Renal
    Version 5.10
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Nephronophthisis 12 # 613820
    Green TTC21B in Renal ciliopathies


    Level 2: Renal
    Version 4.14
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 2: Musculoskeletal
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH