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  3. CNKSR2
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Intellectual disability

Gene: CNKSR2

Green List (high evidence)
CNKSR2 (connector enhancer of kinase suppressor of Ras 2)
EnsemblGeneIds (GRCh38): ENSG00000149970
EnsemblGeneIds (GRCh37): ENSG00000149970
OMIM: 300724, Gene2Phenotype
CNKSR2 is in 4 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Mode of inheritance:

Reports of intellectual disability and seizures are mainly in males (PMID:22511892 - Houge et al 2012, PMID: 25223753 - Vaags et al 2014, PMID:25644381 - Hu et al 2016, PMID:28098945 - Damiano et al 2017, PMID: 30397616 - Sun et al 2018).

Only in 2 cases are females reported with a related phenotype and in both the intellectual disability reported is mild, therefore the mode of inheritance for this phenotype should remain as X-LINKED: hemizygous mutation in males, biallelic mutations in females.

PMID: 28098945 - Damiano et al 2017 - report a nonsense mutation (c.2314 C>T; p.Arg712*) in CNKSR2 in an Ashkenazi Jewish family. The variant was present in all three affected siblings and was inherited in an X-linked manner from their mother who had febrile seizures without language or intellectual impairment. The 2 brothers had developmental and language delay occurring prior to seizure onset, with one more severe than the other. Their sister had mild motor and language delay and seizure onset at 6 years.

PMID: 31414730 - Polla et al 2019 - identified a novo variant, c.2304G>A (p.(Trp768*)), in the C-terminal protein coding part of the X-chromosomal gene CNKSR2 of a female child of a Dutch family who presented with seizures, mild ID, facial dysmorphisms, and abnormalities of the extremities de novo variant. A mild skewing of X inactivation (20:80) was found in the blood of the patient.
Created: 14 Aug 2022, 5:39 p.m. | Last Modified: 14 Aug 2022, 5:39 p.m.
Panel Version: 3.1676
Created: 14 Aug 2022, 5:39 p.m.
Last Modified: 14 Aug 2022, 5:39 p.m.
Panel version: 3.1676

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
INTELLECTUAL DISABILITY WITH EPILEPSY

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

Green List (high evidence)

Created: 23 Feb 2016, 11 a.m.

Panel version: 0.306

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008
  • intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909
OMIM
300724
Clinvar variants
Variants in CNKSR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Aug 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CNKSR2 were changed from ntellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008; intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909 to Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008; intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909

10 Aug 2022, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CNKSR2 were set to

10 Aug 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CNKSR2 were changed from INTELLECTUAL DISABILITY WITH EPILEPSY; X-linked intellectual disability; XLID to ntellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008; intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CNKSR2.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Oct 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY; X-linked intellectual disability; XLID

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

CNKSR2 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CNKSR2 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory