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  3. CNKSR2
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Intellectual_disability

Gene: CNKSR2

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

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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
  • Candidate gene (Grozeva et al, 2015)
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
300724
Clinvar variants
Variants in CNKSR2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CNKSR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CNKSR2 was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CNKSR2 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory