Genomics England
GMS Panels
Panels
Genes and Entities

CNOT3

CCR4-NOT transcription complex subunit 3
OMIM: 604910
PanelMode of inheritanceDetails
3 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
CNOT3 syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CNOT3 syndrome, Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
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
CNOT3 syndrome, intellectual disability, global developmental delay, Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672