Cowden Syndrome 6; Cws6

Clinical Features

Top most frequent phenotypes and symptoms related to Cowden Syndrome 6; Cws6

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cataract
  • High palate
  • Myopia
  • Intellectual disability, mild
  • Kyphosis

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Cowden Syndrome 6; Cws6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Hereditary Thyroid Cancer Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDHB, SDHD, TP53, WRN, DICER1, SRGAP1, AKT1, APC, PIK3CA, PRKAR1A, PTEN, RET
Specificity
9 %
Genes
100 %
AKT1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

AKT1
Specificity
100 %
Genes
100 %
Segmental Overgrowth Disorders - NGS panel (8 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

TSC1, TSC2, AKT1, AKT3, MTOR, PIK3CA, PIK3R2, PTEN
Specificity
13 %
Genes
100 %
Proteus Syndrome (sequence analysis of AKT1 gene).

By CGC Genetics (Portugal).

AKT1
Specificity
100 %
Genes
100 %
Proteus syndrome (frequent somatic mutation, p.Glu17Lys on AKT1 gene).

By CGC Genetics (Portugal).

AKT1
Specificity
100 %
Genes
100 %
Cowden syndrome 6 (sequence analysis of AKT1 gene).

By CGC Genetics (Portugal).

AKT1
Specificity
100 %
Genes
100 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

SF3B1, FOXL2, BRAF, TP53, TYRP1, XPC, CCND1, CDK4, CDK6, CDKN2A, CDKN2B, CTNNB1, DDB2, RICTOR, EGFR, EIF1AX, ERBB2, ERBB3, ERBB4, ERCC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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