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Fetal anomalies

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low 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.

Unlikely to be detected antenatally.
Created: 14 Dec 2021, 9:45 a.m. | Last Modified: 14 Dec 2021, 9:45 a.m.
Panel Version: 0.1355

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

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 Red
  • Genomics England PanelApp
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
OMIM
300724
Clinvar variants
Variants in CNKSR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnksr2 has been classified as Red List (Low Evidence).

14 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNKSR2 were changed from INTELLECTUAL DISABILITY WITH EPILEPSY to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008

14 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNKSR2 were set to

14 Dec 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnksr2 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNKSR2 was added gene: CNKSR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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