Primary Ciliary Dyskinesia(Kartagener syndrome) 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 | DNAAF1/123872 | dynein axonemal assembly factor 1 | 16q24.1 | Chr16, NC_000016.10 (84145308..84177920) |
32613 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | RSPH4A/345895 | radial spoke head component 4A | 6q22.1 | Chr6, NC_000006.12 (116616479..116632985) |
16507 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DNAAF2/55172 | dynein axonemal assembly factor 2 | 14q21.3 | Chr14, NC_000014.9 (49625174..49635244, complement) |
10071 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | DNAI2/64446 | dynein axonemal intermediate chain 2 | 17q25.1 | Chr17, NC_000017.11 (74274234..74314884) |
40651 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | DNAH11/8701 | dynein axonemal heavy chain 11 | 7p15.3 | Chr7, NC_000007.14 (21543039..21901839) |
358801 nt | 82 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | DNAH5/1767 | dynein axonemal heavy chain 5 | 5p15.2 | Chr5, NC_000005.10 (13690328..14011818, complement) |
321491 nt | 86 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | DNAL1/83544 | dynein axonemal light chain 1 | 14q24.3 | Chr14, NC_000014.9 (73644986..73703732) |
58747 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | CCDC39/339829 | coiled-coil domain 39 molecular ruler complex subunit | 3q26.33 | Chr3, NC_000003.12 (180614008..180679489, complement) |
65482 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | CCDC40/55036 | coiled-coil domain 40 molecular ruler complex subunit | 17q25.3 | Chr17, NC_000017.11 (80036642..80100613) |
63972 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | DNAAF3/352909 | dynein axonemal assembly factor 3 | 19q13.42 | Chr19, NC_000019.10 (55158661..55166722, complement) |
8062 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | CCDC103/388389 | coiled-coil domain containing 103 | 17q21.31 | Chr17, NC_000017.11 (44899729..44905390) |
5662 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | ODAD1/93233 | outer dynein arm docking complex subunit 1 | 19q13.33 | Chr19, NC_000019.10 (48296452..48321971, complement) |
25520 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | DNAAF5/54919 | dynein axonemal assembly factor 5 | 7p22.3 | Chr7, NC_000007.14 (726699..786475) |
59777 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | HYDIN/54768 | HYDIN axonemal central pair apparatus protein | 16q22.2 | Chr16, NC_000016.10 (70802084..71230722, complement) |
428639 nt | 86 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | DNAAF11/23639 | dynein axonemal assembly factor 11 | 8q24.22 | Chr8, NC_000008.11 (132570416..132702913, complement) |
132498 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | DRC1/92749 | dynein regulatory complex subunit 1 | 2p23.3 | Chr2, NC_000002.12 (26401920..26456711) |
54792 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | ZMYND10/51364 | zinc finger MYND-type containing 10 | 3p21.31 | Chr3, NC_000003.12 (50341112..50345732, complement) |
4621 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | ODAD2/55130 | outer dynein arm docking complex subunit 2 | 10p12.1 | Chr10, NC_000010.11 (27812168..27999675, complement) |
187508 nt | 30 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | RSPH1/89765 | radial spoke head component 1 | 21q22.3 | Chr21, NC_000021.9 (42472486..42496224, complement) |
23739 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | RSPH9/221421 | radial spoke head component 9 | 6p21.1 | Chr6, NC_000006.12 (43645036..43672600) |
27565 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | DNAAF4/161582 | dynein axonemal assembly factor 4 | 15q21.3 | Chr15, NC_000015.10 (55417755..55508234, complement) |
90480 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | SPAG1/6674 | sperm associated antigen 1 | 8q22.2 | Chr8, NC_000008.11 (100158038..100241904) |
83867 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | CCDC65/85478 | coiled-coil domain containing 65 | 12q13.12 | Chr12, NC_000012.12 (48904133..48921576) |
17444 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | CFAP298/56683 | cilia and flagella associated protein 298 | 21q22.11 | Chr21, NC_000021.9 (32599354..32612377, complement) |
13024 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | CCNO/10309 | cyclin O | 5q11.2 | Chr5, NC_000005.10 (55231152..55233608, complement) |
2457 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | ODAD3/115948 | outer dynein arm docking complex subunit 3 | 19p13.2 | Chr19, NC_000019.10 (11420605..11435782, complement) |
15178 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | RSPH3/83861 | radial spoke head 3 | 6q25.3 | Chr6, NC_000006.12 (158962980..159000202, complement) |
37223 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | GAS8/2622 | growth arrest specific 8 | 16q24.3 | Chr16, NC_000016.10 (90019633..90044960) |
25328 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | DNAI1/27019 | dynein axonemal intermediate chain 1 | 9p13.3 | Chr9, NC_000009.12 (34458805..34520984) |
62180 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | 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 |
| 31 | DNAH8/1769 | dynein axonemal heavy chain 8 | 6p21.2 | Chr6, NC_000006.12 (38715311..39030792) |
315482 nt | 97 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 32 | DNAJB13/374407 | DnaJ heat shock protein family (Hsp40) member B13 | 11q13.4 | Chr11, NC_000011.10 (73951026..73970281) |
19256 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 33 | ODAD4/83538 | outer dynein arm docking complex subunit 4 | 17q21.2 | Chr17, NC_000017.11 (41930617..41966503) |
35887 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 34 | NME8/51314 | NME/NM23 family member 8 | 7p14.1 | Chr7, NC_000007.14 (37848597..37900397) |
51801 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 35 | RPGR/6103 | retinitis pigmentosa GTPase regulator | Xp11.4 | ChrX, NC_000023.11 (38269163..38327509, complement) |
58347 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 36 | OFD1/8481 | OFD1 centriole and centriolar satellite protein | Xp22.2 | ChrX, NC_000023.11 (13714505..13773738) |
59234 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 37 | SPEF2/79925 | sperm flagellar 2 | 5p13.2 | Chr5, NC_000005.10 (35617863..35814611) |
196749 nt | 46 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 38 | 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 |
| 39 | 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 |
| 40 | DAW1/164781 | dynein assembly factor with WD repeats 1 | 2q36.3 | Chr2, NC_000002.12 (227871631..227924344) |
52714 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 41 | 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 |
| 42 | CFAP221/200373 | cilia and flagella associated protein 221 | 2q14.2 | Chr2, NC_000002.12 (119544449..119660323) |
115875 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 43 | CFAP57/149465 | cilia and flagella associated protein 57 | 1p34.2 | Chr1, NC_000001.11 (43172330..43254358) |
82029 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 44 | MPEG1/219972 | macrophage expressed 1 | 11q12.1 | Chr11, NC_000011.10 (59208510..59212927, complement) |
4418 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 45 | GAS2L2/246176 | growth arrest specific 2 like 2 | 17q12 | Chr17, NC_000017.11 (35744511..35753239, complement) |
8729 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 46 | NFKB1/4790 | nuclear factor kappa B subunit 1 | 4q24 | Chr4, NC_000004.12 (102501359..102617302) |
115944 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 47 | CENPF/1063 | centromere protein F | 1q41 | Chr1, NC_000001.11 (214603195..214664571) |
61377 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||