Skeletal dysplasia
Gene: TRAPPC2
spondylo-epi-(meta)-physeal dysplasias gp of SD, green - multiple mutations; Review on behalf of Tracy Lester/Michael OldridgeCreated: 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
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: greenCreated: 6 Mar 2019, 11:37 a.m.
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.
Tier 1Created: 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
Added phenotypes Spondyloepiphyseal dysplasia tarda 313400 for gene: TRAPPC2
Source NHS GMS was added to TRAPPC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda 313400
This gene has been classified as Green List (High Evidence).
TRAPPC2 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services TRAPPC2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
TRAPPC2 was added to Unexplained skeletal dysplasiapanel. Sources:
TRAPPC2 was created by sleigh