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  3. CNOT3
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Fetal anomalies

Gene: CNOT3

Green List (high evidence)
CNOT3 (CCR4-NOT transcription complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000088038
EnsemblGeneIds (GRCh37): ENSG00000088038
OMIM: 604910, Gene2Phenotype
CNOT3 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

16 unrelated individuals reported.

Skeletal and structural brain abnormalities in some.
Created: 25 Mar 2020, 7:09 a.m. | Last Modified: 16 Nov 2021, 1:43 p.m.
Panel Version: 0.525
Created: 25 Mar 2020, 7:09 a.m.
Last Modified: 16 Nov 2021, 1:43 p.m.
Panel version: 0.525

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Likely haploinsufficiency is the mechanism (Martin et al 2019)
Created: 25 Mar 2020, 6:56 a.m. | Last Modified: 25 Mar 2020, 6:56 a.m.
Panel Version: 0.2476

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672

Publications

Created: 25 Mar 2020, 6:56 a.m.
Last Modified: 25 Mar 2020, 6:56 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2476

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies , MIM#618672
OMIM
604910
Clinvar variants
Variants in CNOT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnot3 has been classified as Green List (High Evidence).

16 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNOT3 were changed from CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies , MIM#618672

16 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNOT3 were set to

16 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CNOT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNOT3 was added gene: CNOT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CNOT3 were set to CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672