Ciliary Dyskinesia(Primary ciliary dyskinesia) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Respiratory disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Respiratory 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 | MCIDAS/345643 | multiciliate differentiation and DNA synthesis associated cell cycle protein | 5q11.2 | Chr5, NC_000005.10 (55219564..55227315, complement) |
7752 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DNAAF6/139212 | dynein axonemal assembly factor 6 | Xq22.3 | ChrX, NC_000023.11 (107206611..107244247) |
37637 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CFAP300/85016 | cilia and flagella associated protein 300 | 11q22.1 | Chr11, NC_000011.10 (102047437..102084554) |
37118 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | DNAH1/25981 | dynein axonemal heavy chain 1 | 3p21.1 | Chr3, NC_000003.12 (52310920..52400492) |
89573 nt | 80 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | LRRC56/115399 | leucine rich repeat containing 56 | 11p15.5 | Chr11, NC_000011.10 (506462..554912) |
48451 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | DNAH9/1770 | dynein axonemal heavy chain 9 | 17p12 | Chr17, NC_000017.11 (11598470..11969748) |
371279 nt | 73 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | FOXJ1/2302 | forkhead box J1 | 17q25.1 | Chr17, NC_000017.11 (76136333..76141245, complement) |
4913 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | NEK10/152110 | NIMA related kinase 10 | 3p24.1 | Chr3, NC_000003.12 (27106484..27369383, complement) |
262900 nt | 47 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | TTC12/54970 | tetratricopeptide repeat domain 12 | 11q23.2 | Chr11, NC_000011.10 (113314583..113373297) |
58715 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | STK36/27148 | serine/threonine kinase 36 | 2q35 | Chr2, NC_000002.12 (218672086..218702717) |
30632 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | TP73/7161 | tumor protein p73 | 1p36.32 | Chr1, NC_000001.11 (3652516..3736201) |
83686 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | NME5/8382 | NME/NM23 family member 5 | 5q31.2 | Chr5, NC_000005.10 (138115175..138139428, complement) |
24254 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | CFAP74/85452 | cilia and flagella associated protein 74 | 1p36.33 | Chr1, NC_000001.11 (1921957..2003786, complement) |
81830 nt | 39 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | DNAH7/56171 | dynein axonemal heavy chain 7 | 2q32.3 | Chr2, NC_000002.12 (195737703..196068837, complement) |
331135 nt | 68 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | CLXN/79645 | calaxin | 8q11.21 | Chr8, NC_000008.11 (48710789..48735311, complement) |
24523 nt | 12 | 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 |