TRAPPC2

trafficking protein particle complex 2
OMIM: 300202, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red TRAPPC2 in Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spondyloepiphyseal Dysplasia
  • Spondyloepiphyseal dysplasia tarda

Amber TRAPPC2 in Limb disorders


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Spondyloepiphyseal dysplasia tarda
    • Spondyloepiphyseal dysplasia tarda, 313400

    Green TRAPPC2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.211
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Spondyloepiphyseal dysplasia tarda 313400
    • Spondyloepiphyseal dysplasia tarda 313400

    Red TRAPPC2 in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • SPONDYLOEPIPHYSEAL DYSPLASIA TARDA

    Green TRAPPC2 in DDG2P


    Version 2.78
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400

    Red TRAPPC2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • NA

    Green TRAPPC2 in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondyloepiphyseal dysplasia tarda, 313400