1. Genes and Genomic Entities
  2. TCTN1

TCTN1

tectonic family member 1
OMIM: 609863, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels
Red TCTN1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red TCTN1 in Thoracic dystrophies

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

review Not set
Sources
  • Emory Genetics Laboratory
No list TCTN1 in Ductal plate malformation


Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Joubert syndrome 13 (614173)
Tags
  • curated_removed
Red TCTN1 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:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red TCTN1 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.118

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red TCTN1 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.47

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • UKGTN
    • Expert Review
    Phenotypes
    • Joubert syndrome
    Red TCTN1 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.42

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red TCTN1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Green TCTN1 in Unexplained young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • Joubert syndrome 13 614173
    Green TCTN1 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Joubert syndrome 13 614173
    • JOUBERT SYNDROME AND RELATED DISORDERS
    Green TCTN1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • JOUBERT SYNDROME AND RELATED DISORDERS 194263
    Red TCTN1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Joubert syndrome 13, 614173
    • intellectual disability
    Tags
    • watchlist
    Red TCTN1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Red TCTN1 in Structural eye disease


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Joubert syndrome
    • Joubert syndrome 13, 614173
    Green TCTN1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.170

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome
    Green TCTN1 in Ophthalmological ciliopathies


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome
    Green TCTN1 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.18
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    Green TCTN1 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:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome
    Red TCTN1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome
    Green TCTN1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 13, 614173