This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: CNKSR1
CNKSR1 (connector enhancer of kinase suppressor of Ras 1)
EnsemblGeneIds (GRCh38): ENSG00000142675
EnsemblGeneIds (GRCh37): ENSG00000142675
OMIM: 603272, Gene2Phenotype
CNKSR1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000142675
EnsemblGeneIds (GRCh37): ENSG00000142675
OMIM: 603272, Gene2Phenotype
CNKSR1 is in 2 panels
1 review
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.
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P)
- OMIM
- 603272
- Clinvar variants
- Variants in CNKSR1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Mar 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for CNKSR1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P)
28 Feb 2018, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for CNKSR1 were set to 26350204; 21937992
28 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CNKSR1 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)CNKSR1 was created by Ellen McDonagh