Genomics England
GMS Panels
Panels
Genes and Entities

EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit
OMIM: 601573
PanelMode of inheritanceDetails
6 panels
Green
in Childhood solid tumours
Signed-off version 5.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Weaver syndrome, 277590, Weaver Syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WEAVER SYNDROME 2 614421
Green
in Embryonal tumour of possible germline origin
R-numbers: R456
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Weaver syndrome, OMIM:277590, Weaver syndrome, MONDO:0010193
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WEAVER SYNDROME 2
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
WEAVER SYNDROME 2
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Weaver syndrome