RUNX2

runt related transcription factor 2
OMIM: 600211
PanelMode of inheritanceDetails
4 panels
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis, 156510
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CLEIDOCRANIAL DYSPLASIA 119600
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CLEIDOCRANIAL DYSPLASIA
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
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