Genomics England
GMS Panels
Panels
Genes and Entities

RUNX2

runt related transcription factor 2
OMIM: 600211
PanelMode of inheritanceDetails
5 panels
Green
in Cleidocranial Dysplasia
R-numbers: R415
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CLEIDOCRANIAL DYSPLASIA 119600
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CLEIDOCRANIAL DYSPLASIA
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis, 156510
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510, Cleidocranial dysplasia, forme fruste, with brachydactyly 119600, Cleidocranial dysplasia, forme fruste, dental anomalies only 119600, Cleidocranial dysplasia 119600