Genomics England
GMS Panels
Panels
Genes and Entities

CNOT1

CCR4-NOT transcription complex subunit 1
OMIM: 604917
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Green
in Intellectual disability
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
Holoprosencephaly 12, with or without pancreatic agenesis, 618500, global developmental delay