DNAH5 | 5p | Dynein arm component (heavy chain) | ODA defects | Yes |
DNAI1 | 9p13 | Dynein arm component (intermediate chain) | ODA defects | Yes |
DNAH11 | 7p21 | Dynein arm component (heavy chain) | Normal structure | Yes |
DNAI2 | 17q25 | Dynein arm component (intermediate chain) | ODA defects | Yes |
DNAL1 | 14q24.3 | Dynein arm component (light chain) | ODA defects | Yes |
CCDC114 | 19q13.33 | Dynein arm microtubule-docking complex component | ODA defects | Yes |
TXNDC3 (NME8) | 7p14-p13 | Possible dynein arm component | Partial ODA defects in some cilia | Yes |
DNAAF1 (LRRC50) | 16q24.1 | Cytoplasmic dynein arm assembly factor | ODA+IDA defects | Yes |
DNAAF2 (KTU) | 14q21.3 | Cytoplasmic dynein arm assembly factor | ODA+IDA defects | Yes |
DNAAF3 (PF22, C19ORF51) | 19q13 | Cytoplasmic dynein arm assembly factor | ODA+IDA defects | Yes |
CCDC103 | 17q21.31 | Dynein arm anchoring protein | ODA+IDA defects | Yes |
HEATR2 | 7p22.3 | HEAT repeat containing protein required for dynein arm assembly | ODA+IDA defects | Yes |
LRRC6 | 8q24.22 | Protein involved in cilia and flagella assembly | ODA+IDA defects | Yes |
HYDIN | 16q22 | Protein forming a part of C2b central pair subunit | Normal, occasional CP defects | No |
RSPH4A | 6q22 | Component of radial spoke head | Mostly normal, CP defects in some cilia | No |
RSPH9 | 6p21 | Component of radial spoke head | Mostly normal, CP defects in some cilia | No |
CCDC39 | 3q26.33 | Protein essential for assembly of IDAs and the dynein regulatory complex | IDA defects + axonemal disorganisation | Yes |
CCDC40 | 17q25.3 | Protein essential for assembly of IDAs and the dynein regulatory complex | IDA defects + axonemal disorganisation | Yes |
CCDC164 (DRC1) | 2p23.3 | Subunit of nexin–dynein regulatory complex | Nexin link missing Axonemal disorganisation in some cilia | No |
RPGR | Xp21.1 | Protein involved in microtubule organisation or regulation of transport in primary cilia | Mixed | No |
OFD1 | Xq22 | Contributes to the regulation of microtubule dynamics | Not applicable | No |
ARMC4 | 10p12.1 | Protein required for a late step in proper targeting and anchoring of ODAs | ODA defects | Yes |
DYX1C1 (DNAAF4) | 15q21.3 | Cytoplasmic axonemal dynein assembly factor | ODA + IDA defects | Yes |
ZMYND10 | 3p21.31 | Regulation of transcription of dynein proteins | ODA + IDA defects | Yes |
CCDC65 | 12q13.12 | Subunit of the nexin–dynein regulatory complex | IDA + nexin link defects | No |
RSPH1 | 21q22.3 | Component of the radial spoke head | Central microtubule complex and radial spoke defects | No |
SPAG1 | 8q22.2 | Cytoplasmic assembly of the dynein arms | ODA + IDA defects | Yes |