Cerebral Cavernous Malformations 2; Ccm2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Cerebral Cavernous Malformations 2; Ccm2

CCM2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebral Cavernous Malformations 2; Ccm2

Seizures
Ataxia
Headache
Gait ataxia
Stroke
Generalized tonic-clonic seizures
Vertigo
Status epilepticus
Telangiectasia
Diplopia

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Cerebral Cavernous Malformations 2; Ccm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Complete CCM Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). KRIT1, CCM2, PDCD10 Specificity 34 % Genes 100 %
CCM2 Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). CCM2 Specificity 100 % Genes 100 %
NGS Vascular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...) View the complete list with 1 more genes Panel complete gene list SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14, RASA1 Specificity 5 % Genes 100 %
familial cerebral carvernous malformations (CCM). By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). KRIT1, CCM2, PDCD10 Specificity 34 % Genes 100 %
CCM2. By Institute for Human Genetics University Clinic Freiburg (Germany). CCM2 Specificity 100 % Genes 100 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). BMPR2, TEK, GLMN, CAV1, KRIT1, ACVRL1, CCM2, ENG, GDF2, KCNK3, SMAD4, PDCD10, PTEN, RASA1 Specificity 8 % Genes 100 %
CCM2 Gene Sequencing. By GeneDx (United States). CCM2 Specificity 100 % Genes 100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...) View the complete list with 1 more genes Panel complete gene list BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1 Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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