Genomics England
GMS Panels
Panels
Genes and Entities

CNOT2

CCR4-NOT transcription complex subunit 2
OMIM: 604909
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CNOT2-related neurodevelopmental disorder with hypotonia
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608