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  3. CNOT1
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Intellectual disability syndromic and non-syndromic

Gene: CNOT1

Green List (high evidence)
CNOT1 (CCR4-NOT transcription complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000125107
EnsemblGeneIds (GRCh37): ENSG00000125107
OMIM: 604917, Gene2Phenotype
CNOT1 is in 4 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Heterozygous variants in the CNOT1 also cause holoprosencephaly-12 with or without pancreatic agenesis (HPE12; 618500), which shows some overlapping neurologic features.
Created: 29 Sep 2020, 9:34 p.m. | Last Modified: 29 Sep 2020, 9:34 p.m.
Panel Version: 0.3028

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vissers-Bodmer syndrome, MIM#619033

Created: 29 Sep 2020, 9:34 p.m.
Last Modified: 29 Sep 2020, 9:34 p.m.
Panel version: 0.3028

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:32553196 : 39 individuals with heterozygous de novo CNOT1 variants, including missense, splice site, and nonsense variants, who present with a clinical spectrum of intellectual disability, motor delay, speech delay, seizures, hypotonia, and behavioral problems.
Created: 6 Jul 2020, 6:34 a.m. | Last Modified: 6 Jul 2020, 6:34 a.m.
Panel Version: 0.2736

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental delay

Publications

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

Created: 6 Jul 2020, 6:34 a.m.
Last Modified: 6 Jul 2020, 6:34 a.m.
Panel version: 0.2736

Sebastian Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

From GEL: More than three independent families previously described
Sources: Expert list
Created: 27 Jan 2020, 5:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 12, with or without pancreatic agenesis 618500

Publications

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

Created: 27 Jan 2020, 5:36 a.m.

Panel version: 0.1718

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vissers-Bodmer syndrome, MIM#619033
  • Holoprosencephaly 12, with or without pancreatic agenesis 618500
OMIM
604917
Clinvar variants
Variants in CNOT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12, with or without pancreatic agenesis 618500 to Vissers-Bodmer syndrome, MIM#619033; Holoprosencephaly 12, with or without pancreatic agenesis 618500

29 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNOT1 were set to 31006510; 21679367; 31006513

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: cnot1 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: cnot1 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: CNOT1 was added gene: CNOT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNOT1 were set to 31006510; 21679367; 31006513 Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis 618500 Review for gene: CNOT1 was set to GREEN gene: CNOT1 was marked as current diagnostic