TCTEX1D2

Tctex1 domain containing 2
OMIM: 617353, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green TCTEX1D2 in Thoracic dystrophies

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
  • Jeune asphyxiating thoracic dystrophy
  • JATD
Tags
  • new-gene-name
No list TCTEX1D2 in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
    • Polydactyly
    • Brachydactyly
    Tags
    • new-gene-name
    • curated_removed
    No list TCTEX1D2 in Ductal plate malformation


    Version 1.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
    Tags
    • curated_removed
    Green TCTEX1D2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
    Tags
    • new-gene-name
    Green TCTEX1D2 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
    • Jeune asphyxiating thoracic dystrophy
    • JATD
    Tags
    • new-gene-name
    Green TCTEX1D2 in Rare multisystem ciliopathy disorders

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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
    • Jeune asphyxiating thoracic dystrophy
    • JATD
    Tags
    • new-gene-name
    Green TCTEX1D2 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
    • Jeune asphyxiating thoracic dystrophy
    • JATD
    Tags
    • new-gene-name
    Red TCTEX1D2 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    Tags
    • new-gene-name
    Green TCTEX1D2 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
    Tags
    • new-gene-name