PanelApp (staging)
  1. Genes and Genomic Entities
  2. TCTEX1D2

TCTEX1D2

Tctex1 domain containing 2
OMIM: 617353, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TCTEX1D2 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

1 review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green TCTEX1D2 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405

Green TCTEX1D2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405

Green TCTEX1D2 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.281

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405

    Green TCTEX1D2 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


    Level 2: Skeletal disorders
    Version 1.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405

    Green TCTEX1D2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405

    Green TCTEX1D2 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
    • JATD
    • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405