PCGF2

polycomb group ring finger 2
OMIM: 600346
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DUSBILITY, Craniofacial Neurological Cardiovascular and Skeletal Features
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DUSBILITY, Craniofacial Neurological Cardiovascular and Skeletal Features, Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, dysmorphic features, Global developmental delay, Abnormality of the cardiovascular system, Abnormality of the cerebrum, Abnormality of the skeletal system