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 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DUSBILITY, Craniofacial Neurological Cardiovascular and Skeletal Features
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DUSBILITY, Craniofacial Neurological Cardiovascular and Skeletal Features, Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
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