Genomics England
GMS Panels
Panels
Genes and Entities

CCDC8

coiled-coil domain containing 8
OMIM: 614145
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 3, OMIM:614205, 3M syndrome 3, MONDO:0013627
Green
in Growth failure in early childhood
R-numbers: R147
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 3, 614205, 3M
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 3, 614205