CNOT1

CCR4-NOT transcription complex subunit 1
OMIM: 604917, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CNOT1 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787

Green CNOT1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vissers-Bodmer syndrome, MIM#619033
  • Holoprosencephaly 12, with or without pancreatic agenesis
  • OMIM# 618500

Green CNOT1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vissers-Bodmer syndrome, MIM#619033
  • Holoprosencephaly 12, with or without pancreatic agenesis 618500

Amber CNOT1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Expert list
  • Literature
Phenotypes
  • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
  • Vissers-Bodmer syndrome, MIM#619033