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  3. CNOT3
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Cerebral vascular malformations

Gene: CNOT3

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

1 review

Sue White (Victorian Clinical Genetics Services)

I don't know

2 families with de novo variants (one nonsense and one missense) in individuals with ID and Moya Moya
Sources: Literature
Created: 27 Nov 2020, 2:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Moya Moya; intellectual disability

Publications

Created: 27 Nov 2020, 2:26 a.m.

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moya Moya
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
OMIM
604910
Clinvar variants
Variants in CNOT3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Nov 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnot3 has been classified as Amber List (Moderate Evidence).

27 Nov 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNOT3 were changed from Moya Moya; intellectual disability to Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672

27 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: cnot3 has been classified as Amber List (Moderate Evidence).

27 Nov 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: CNOT3 was added gene: CNOT3 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNOT3 were set to 31474762 Phenotypes for gene: CNOT3 were set to Moya Moya; intellectual disability Penetrance for gene: CNOT3 were set to Complete Review for gene: CNOT3 was set to AMBER