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Fetal anomalies

Gene: TRAPPC2

Red List (low evidence)

TRAPPC2 (trafficking protein particle complex 2)
EnsemblGeneIds (GRCh38): ENSG00000196459
EnsemblGeneIds (GRCh37): ENSG00000196459
OMIM: 300202, Gene2Phenotype
TRAPPC2 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Age of onset is 5-10 years. Action taken: Demoted gene rating from Green to Red.
Created: 18 Apr 2019, 11:28 a.m.
DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
OMIM
300202
Clinvar variants
Variants in TRAPPC2
Penetrance
None
Panels with this gene

History Filter Activity

18 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to TRAPPC2. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TRAPPC2 was added gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA