Genomics England
GMS Panels
Panels
Genes and Entities

EZH1

enhancer of zeste 1 polycomb repressive complex 2 subunit
OMIM: 601674
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
EZH1-related neurodevelopmental disorder
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071