Meckel Syndrome, Type 4(CEP290-Related Meckel Syndrome)
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic 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 | CEP290/80184 | centrosomal protein 290 | 12q21.32 | Chr12, NC_000012.12 (88049016..88142088, complement) |
93073 nt | 60 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TMEM218/219854 | transmembrane protein 218 | 11q24.2 | Chr11, NC_000011.10 (125094389..125111626, complement) |
17238 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities