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 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CNOT3 syndrome
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CNOT3 syndrome, Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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