Genomics England
GMS Panels
Panels
Genes and Entities

TRAPPC2

trafficking protein particle complex 2
OMIM: 300202
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spondyloepiphyseal dysplasia tarda 313400, Spondyloepiphyseal dysplasia tarda 313400