Autosomal Dominant Robinow Syndrome(Robinow dwarfism)
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 | WNT5A/7474 | Wnt family member 5A | 3p14.3 | Chr3, NC_000003.12 (55465715..55505263, complement) |
39549 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DVL1/1855 | dishevelled segment polarity protein 1 | 1p36.33 | Chr1, NC_000001.11 (1335278..1349418, complement) |
14141 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DVL3/1857 | dishevelled segment polarity protein 3 | 3q27.1 | Chr3, NC_000003.12 (184155377..184173614) |
18238 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | FZD2/2535 | frizzled class receptor 2 | 17q21.31 | Chr17, NC_000017.11 (44557484..44561262) |
3779 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CHN1/1123 | chimerin 1 | 2q31.1 | Chr2, NC_000002.12 (174798809..175005381, complement) |
206573 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |