TRAPPC2

trafficking protein particle complex subunit 2
OMIM: 300202, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TRAPPC2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Spondyloepiphyseal dysplasia tarda, MIM# 313400