Genomics England
GMS Panels
Panels
Genes and Entities

CBFB

core-binding factor beta subunit
OMIM: 121360
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CBFB-related cleidocranial dysplasia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleidocranial dysplasia-2, OMIM:620099
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleidocranial dysplasia 2, OMIM:620099, cleidocranial dysplasia 2, MONDO:0859307