Klippel-Feil Syndrome(Cervical C2/C3 vertebral fusion)
An Autosomal dominant mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Bone 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 | GDF6/392255 | growth differentiation factor 6 | 8q22.1 | Chr8, NC_000008.11 (96142333..96160806, complement) |
18474 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GDF3/9573 | growth differentiation factor 3 | 12p13.31 | Chr12, NC_000012.12 (7689784..7695775, complement) |
5992 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | MEOX1/4222 | mesenchyme homeobox 1 | 17q21.31 | Chr17, NC_000017.11 (43640389..43661922, complement) |
21534 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | RIPPLY2/134701 | ripply transcriptional repressor 2 | 6q14.2 | Chr6, NC_000006.12 (83853229..83857515) |
4287 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | MYO18B/84700 | myosin XVIIIB | 22q12.1 | Chr22, NC_000022.11 (25742188..26063847) |
321660 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities