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  3. TRAPPC2
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Multiple Epiphyseal Dysplasia

Gene: TRAPPC2

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

3 reviews

Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Gene not associated with multiple epiphyseal dysplasia.
Created: 5 Feb 2016, 3:55 p.m.
Comment on mode of inheritance: X-linked recessive (OMIM and G2P).
Created: 5 Feb 2016, 3:54 p.m.
Comment on list classification: Confirmed DD gene for spondyloepiphyseal dysplasia tarda.
Created: 5 Feb 2016, 3:53 p.m.
Created: 5 Feb 2016, 3:53 p.m.

Panel version: 0.36

Michael Briggs (Newcastle University)

Red List (low evidence)

No published reports that mutations in TRAPPC2 cause radiographically confirmed MED. Mutations in TRAPPC2 do cause X-linked spondyloepiphyseal dysplasia tarda
Created: 9 Oct 2015, 5:08 p.m.

Mode of inheritance
Unknown

Mode of pathogenicity
Other

Created: 9 Oct 2015, 5:08 p.m.

Panel version: 0

Details

Mode of Inheritance
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
OMIM
300202
Clinvar variants
Variants in TRAPPC2
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TRAPPC2 were set to Spondyloepiphyseal Dysplasia; Spondyloepiphyseal dysplasia tarda

5 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TRAPPC2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TRAPPC2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services