Skeletal dysplasia
Gene: TRAPPC2

TRAPPC2 (trafficking protein particle complex 2)
EnsemblGeneIds (GRCh38): ENSG00000196459
EnsemblGeneIds (GRCh37): ENSG00000196459
OMIM: 300202, Gene2Phenotype
TRAPPC2 is in 6 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

spondylo-epi-(meta)-physeal dysplasias gp of SD, green - multiple mutations; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spondyloepiphyseal dysplasia tarda 313400

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TRAPPC2; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:13 p.m.

Created: 21 Jun 2016, 1:13 p.m.

Panel version: 0.90

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:09 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spondyloepiphyseal dysplasia tarda 313400

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:09 a.m.

Panel version: 0.4

Details

Mode of Inheritance

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

OMIM

300202

Clinvar variants

Variants in TRAPPC2

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondyloepiphyseal dysplasia tarda 313400 for gene: TRAPPC2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TRAPPC2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4