Genetic Epilepsy
Gene: CNKSR2

CNKSR2 (connector enhancer of kinase suppressor of Ras 2)
EnsemblGeneIds (GRCh38): ENSG00000149970
EnsemblGeneIds (GRCh37): ENSG00000149970
OMIM: 300724, Gene2Phenotype
CNKSR2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected. 13 new families and literature review in PMID 34266427
Created: 3 Dec 2021, 6:46 a.m. | Last Modified: 3 Dec 2021, 6:46 a.m.

Panel Version: 0.10036

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008

Publications

34266427

Created: 3 Dec 2021, 6:46 a.m.
Last Modified: 3 Dec 2021, 6:46 a.m.
Panel version: Imported from Mendeliome panel version 0.10036

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008

OMIM

300724

Clinvar variants

Variants in CNKSR2

Penetrance

None

Publications

34266427

Panels with this gene