Genomics England
GMS Panels
Panels
Genes and Entities

CNOT1

CCR4-NOT transcription complex subunit 1
OMIM: 604917
PanelMode of inheritanceDetails
5 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
pancreatic agenesis and holoprosencephaly syndrome, HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Green
in Holoprosencephaly - NOT chromosomal
Component of the following Super Panels:
  • - Cerebral malformation
R-numbers: R85
Signed-off version 5.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500, holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787
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
Holoprosencephaly 12, with or without pancreatic agenesis, 618500, global developmental delay
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500, holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787