Fetal anomalies
Gene: CNKSR2

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY WITH EPILEPSY
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance

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

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

INTELLECTUAL DISABILITY WITH EPILEPSY

OMIM

300724

Clinvar variants

Variants in CNKSR2

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CNKSR2 was added gene: CNKSR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY

Fetal anomalies Gene: CNKSR2