Spondylocostal Dysostosis(Spondylothoracic dysostosis) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive 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 | MESP2/145873 | mesoderm posterior bHLH transcription factor 2 | 15q26.1 | Chr15, NC_000015.10 (89776332..89778754) |
2423 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DLL3/10683 | delta like canonical Notch ligand 3 | 19q13.2 | Chr19, NC_000019.10 (39498947..39508469) |
9523 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | LFNG/3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | 7p22.3 | Chr7, NC_000007.14 (2512529..2529177) |
16649 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | HES7/84667 | hes family bHLH transcription factor 7 | 17p13.1 | Chr17, NC_000017.11 (8120592..8126634, complement) |
6043 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | TBX6/6911 | T-box transcription factor 6 | 16p11.2 | Chr16, NC_000016.10 (30085793..30091924, complement) |
6132 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | 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 |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |