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Intellectual disability syndromic and non-syndromic

Gene: CNOT2

Green List (high evidence)

CNOT2 (CCR4-NOT transcription complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000111596
EnsemblGeneIds (GRCh37): ENSG00000111596
OMIM: 604909, Gene2Phenotype
CNOT2 is in 3 panels

1 review

Sebastian Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Created: 27 Jan 2020, 5:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
OMIM
604909
Clinvar variants
Variants in CNOT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: cnot2 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: cnot2 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sebastian Lunke (Victorian Clinical Genetics Services)

gene: CNOT2 was added gene: CNOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719 Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608 Review for gene: CNOT2 was set to GREEN gene: CNOT2 was marked as current diagnostic