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Limb disorders

Gene: TRAPPC2

Amber List (moderate evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

X-linked Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. This gene is better represented on the Unexplained skeletal dysplasia panel.
Created: 7 Nov 2018, 1:26 p.m.

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

Phenotypes
Spondyloepiphyseal dysplasia tarda, 313400

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Presents with short stature (MEDT), on skeletal dysplasia panel
Created: 9 Sep 2018, 5:12 p.m.
Comment on list classification: Rated Amber on advice from Genomics England clinical team
Created: 9 Sep 2018, 5:11 p.m.

Details

Mode of Inheritance
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
OMIM
300202
Clinvar variants
Variants in TRAPPC2
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Comment on list classification

7 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: trappc2 has been classified as Amber List (Moderate Evidence).

7 Nov 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2

9 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: trappc2 has been classified as Amber List (Moderate Evidence).

5 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TRAPPC2 was added to Limb disorders panel. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services

5 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

TRAPPC2 was created by Ellen McDonagh