Cerebral Cavernous Malformations 2; Ccm2
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.
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
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
Specificity
5 %
Genes
100 % |
You can get up to 39 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MISMATCH REPAIR CANCER SYNDROME; MMRCS FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3 BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS ATYPICAL WERNER SYNDROME GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC 2Q24 MICRODELETION SYNDROME