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 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) in OMIM and as confirmed Gen2Phen gene for CNOT3 syndrome. At least two de novo variants have been reported in two cases with Moyamoya disease MONDO:0016820, who also had some of the features of OMIM:618672.
Created: 28 Apr 2021, 3:59 p.m. | Last Modified: 28 Apr 2021, 4:38 p.m.
Panel Version: 2.43

Zornitza Stark (Australian Genomics)

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: 9 Dec 2020, 7:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Moyamoya disease MONDO:0016820
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672
  • intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864
OMIM
604910
Clinvar variants
Variants in CNOT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CNOT3 were changed from Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672; intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864 to Moyamoya disease MONDO:0016820; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672; intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864

28 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CNOT3 were changed from Moya Moya; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672; intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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 developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 Review for gene: CNOT3 was set to AMBER