Short-rib Thoracic Dysplasia 6 With Or Without Polydactyly(Majewski syndrome) Explore Disorder's Alias
An Autosomal recessive, Digenic recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive, Digenic 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 | NEK1/4750 | NIMA related kinase 1 | 4q33 | Chr4, NC_000004.12 (169392809..169612583, complement) |
219775 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | WDR35/57539 | WD repeat domain 35 | 2p24.1 | Chr2, NC_000002.12 (19910263..19990105, complement) |
79843 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | TTC21B/79809 | tetratricopeptide repeat domain 21B | 2q24.3 | Chr2, NC_000002.12 (165873362..165953776, complement) |
80415 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | TRAF3IP1/26146 | TRAF3 interacting protein 1 | 2q37.3 | Chr2, NC_000002.12 (238320518..238400900) |
80383 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | IFT172/26160 | intraflagellar transport 172 | 2p23.3 | Chr2, NC_000002.12 (27444377..27489743, complement) |
45367 nt | 53 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | DYNC2LI1/51626 | dynein cytoplasmic 2 light intermediate chain 1 | 2p21 | Chr2, NC_000002.12 (43774039..43828347) |
54309 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | EVC2/132884 | EvC ciliary complex subunit 2 | 4p16.2 | Chr4, NC_000004.12 (5529011..5709548, complement) |
180538 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | EVC/2121 | EvC ciliary complex subunit 1 | 4p16.2 | Chr4, NC_000004.12 (5711201..5829057) |
117857 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | DYNC2H1/79659 | dynein cytoplasmic 2 heavy chain 1 | 11q22.3 | Chr11, NC_000011.10 (103109426..103479863) |
370438 nt | 90 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | FUZ/80199 | fuzzy planar cell polarity protein | 19q13.33 | Chr19, NC_000019.10 (49806866..49813553, complement) |
6688 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||