Genomics England
GMS Panels
Panels
Genes and Entities

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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DUSBILITY, Craniofacial Neurological Cardiovascular and Skeletal Features
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DUSBILITY, Craniofacial Neurological Cardiovascular and Skeletal Features, Intellectual disability
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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