Genomics England
GMS Panels
Panels
Genes and Entities

EXOC6B

exocyst complex component 6B
OMIM: 607880
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395