1. Genes and Genomic Entities
  2. TCTN3

TCTN3

tectonic family member 3
OMIM: 613847, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Red TCTN3 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
No list TCTN3 in Limb disorders


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Joubert syndrome 18, 614815
    • Orofaciodigital syndrome IV, 258860
    Tags
    • curated_removed
    No list TCTN3 in Ductal plate malformation


    Version 1.31

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Joubert syndrome 18 (614815)
    • Orofaciodigital syndrome IV (258860)
    Tags
    • curated_removed
    Red TCTN3 in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    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 Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red TCTN3 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review Not set
    Sources
    • Expert
    • Expert Review Red
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red TCTN3 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert Review
    Phenotypes
    • Joubert syndrome
    • Orofaciodigital syndrome IV
    Green TCTN3 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    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
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Orofaciodigital syndrome IV 258860
    • Joubert syndrome 18 614815
    Green TCTN3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MOHR-MAJEWSKI SYNDROME
    No list TCTN3 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green TCTN3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MOHR-MAJEWSKI SYNDROME 258860
    Green TCTN3 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    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 Green
    Phenotypes
    • OROFACIODIGITAL SYNDROME IV
    • OFD4
    Green TCTN3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.280
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Orofaciodigital syndrome IV, 258860
    • Joubert syndrome 18, 614815
    Red TCTN3 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Red TCTN3 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Joubert syndrome
    • Orofaciodigital syndrome IV
    • Joubert syndrome 18, 614815
    • Orofaciodigital syndrome IV, 258860
    Green TCTN3 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    • Expert list
    Phenotypes
    • Orofaciodigital syndrome IV
    • Joubert syndrome
    • Meckel-Gruber
    • Mohr-Majewski syndrome
    • Joubert syndrome 18
    Green TCTN3 in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (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
    • Expert list
    • Other
    Phenotypes
    • Joubert syndrome
    • Orofaciodigital syndrome IV
    • Joubert syndrome 18
    • Meckel-Gruber
    • Mohr-Majewski syndrome
    Green TCTN3 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome
    • Orofaciodigital syndrome IV
    • Joubert syndrome 18
    • Meckel-Gruber
    • Mohr-Majewski syndrome
    Green TCTN3 in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    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
    • Expert list
    • Other
    Phenotypes
    • Joubert syndrome
    • Orofaciodigital syndrome IV
    • Joubert syndrome 18
    • Meckel-Gruber
    • Mohr-Majewski syndrome
    Red TCTN3 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Meckel-Gruber
    • Joubert syndrome
    • Joubert syndrome 18
    • Orofaciodigital syndrome IV
    • Mohr-Majewski syndrome