CNOT1

CCR4-NOT transcription complex subunit 1
OMIM: 604917
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Component of the following Super Panels:
  • - Cerebral malformation
R-numbers: R85
Signed-off version 4.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 12, with or without pancreatic agenesis, 618500, global developmental delay