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Autism

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

16 unrelated individuals reported.
Created: 25 Mar 2020, 7:10 a.m. | Last Modified: 25 Mar 2020, 7:10 a.m.
Panel Version: 0.77

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 25 Mar 2020, 7:10 a.m.
Last Modified: 25 Mar 2020, 7:10 a.m.
Panel version: 0.77

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

25 Mar 2020, 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).

25 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNOT3 were set to

25 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNOT3 was added gene: CNOT3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CNOT3 was set to Unknown