Genomics England
GMS Panels
Panels
Genes and Entities

EXOC6B

exocyst complex component 6B
OMIM: 607880
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395