Cerebral Cavernous Malformation(Famililal cerebral cavernous malformations)
An Autosomal dominant mode(s) within the Neuronal disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neuronal disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PDCD10/11235 | programmed cell death 10 | 3q26.1 | Chr3, NC_000003.12 (167683298..167734892, complement) |
51595 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CCM2/83605 | CCM2 scaffold protein | 7p13 | Chr7, NC_000007.14 (44999746..45076470) |
76725 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | KRIT1/889 | KRIT1 ankyrin repeat containing | 7q21.2 | Chr7, NC_000007.14 (92198969..92246100, complement) |
47132 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NOTCH3/4854 | notch receptor 3 | 19p13.12 | Chr19, NC_000019.10 (15159038..15200995, complement) |
41958 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities