Genomics England
GMS Panels
Panels
Genes and Entities

CCDC8

coiled-coil domain containing 8
OMIM: 614145
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THREE M SYNDROME 3 614205
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 3, OMIM:614205, 3M syndrome 3, MONDO:0013627
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 3, OMIM:614205
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 3, 614205