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Intellectual disability

Gene: CNKSR1

Red List (low evidence)

CNKSR1 (connector enhancer of kinase suppressor of Ras 1)
EnsemblGeneIds (GRCh38): ENSG00000142675
EnsemblGeneIds (GRCh37): ENSG00000142675
OMIM: 603272, Gene2Phenotype
CNKSR1 is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Listed as a candidate gene in Grozeva et al, 2015 (PMID: 26350204) - several variants reported from cases with ID with varying predicted effects from benign to deleterious. Gene not listed in their tables of genes with likely pathogenic LoF or missense variants. A variant also reported in one individual in Najmabadi et al 2011 (PMID: 21937992) (in Gene2Phenotype). Listed with possible association with AUTOSOMAL RECESSIVE MENTAL RETARDATION in DD Gene.
Created: 28 Feb 2018, 5:41 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P)
OMIM
603272
Clinvar variants
Variants in CNKSR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene CNKSR1 was set to ['26350204', '21937992']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CNKSR1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CNKSR1 was created by ellenmcdonagh