Table S1. Overview of the diagnostic PCD-gene panel.
LOGES, Niki T., et al. Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects. The American Journal of Human Genetics, 2018, 103. Jg., Nr. 6, S. 995-1008.
Publication: https://doi.org/10.1016/j.ajhg.2018.10.020
Description
Genes included in the gene panelrelated to ciliary motility, PCD and laterality defects.
Disclaimer
The publication Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects by NT. Loges, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. is published under an open access no derivatives license: : https://creativecommons.org/licenses/by-nc-nd/3.0/. Permits non-commercial use of the work as published, without adaptation or alteration provided the work is fully attributed.
Curation by the MFGA team
Pie chart of selected column
Table
| GENE | Locus | References |
|---|---|---|
| DNAH9 | 17p12 | not published |
| DNAH5 | 5p15 | Olbrich et al. 2002 |
| DNAH11 | 7p15.3 | Bartoloni et al. 2002; Schwabeet al. 2008 |
| DNAI1 | 9p13.3 | Pennarum et al. 1999; Zariwala et al. 2006 |
| DNAI2 | 17q25.1 | Loges et al. 2008 |
| TXNDC3 | 7p14.1 | Duriez et al. 2007 |
| NME8 | 7p14.1 | Duriez et al. 2007 |
| DNAL1 | 14q24.3 | Mazor et al. 2011 |
| CCDC103 | 17q12 | Panizzi et al. 2012 |
| CCDC114 | 19q13.33 | Onoufriadis et al. 2013; Knowles et al. 2013 |
| ARMC4 | 10p21 | Hjeij et al. 2013 |
| CCDC151 | 19p13.2 | Hjeij et al. 2014 |
| TTC25 | 17q21.2 | Wallmeier et al. 2016 |
| LRRC50 | 16q24 | Loges et al. 2009; Duquesnoy et al. 2009 |
| DNAAF1 | 16q24 | Loges et al. 2009; Duquesnoy et al. 2009 |
| KTU | 14q21.3 | Omran et al. 2008 |
| DNAAF2 | 14q21.3 | Omran et al. 2008 |
| DNAAF3 | 19q13 | Mitchison et al. 2012 |
| DYX1C1 | 15q21 | Mitchison et al. 2012 |
| DNAAF4 | 15q21 | Tarkar et al. 2013 |
| SPAG1 | 8q22 | Knowles et al. 2013 |
| ZMYND10 | 3p21.3 | Moore et al. 2013; Zariwala et al.2013 |
| HEATR2 | 7p22.3 | Horani et al. 2012 |
| DNAAF5 | 7p22.3 | Horani et al. 2012 |
| C21ORF59 | 21q22.1 | Austin-Tse et al. 2013 |
| LRRC6 | 8q24 | Kott et al. 2012; Horani et al. 2013 |
| PIH1D3 | Xq22.3 | Paff et al. 2017; Olcese et al. 2017 |
| RPGR | Xp21.1 | Moore et al.2006 |
| OFD1 | Xp22 | Budny et al. 2006 |
| HYDIN | 16q22 | Olbrich et al. 2012 |
| STK36 | 2q35 | Edelbusch et al. 2017 |
| RSPH1 | 21q22.3 | Kott et al. 2013; Knowles et al. 2014 |
| RSPH9 | 6p21 | Castleman et al. 2009 |
| RSPH4A | 6q22 | Castleman et al. 2009 |
| RSPH3 | 6q25.3 | Jeansonet al. 2015 |
| CCDC164 | 2p23 | Wirshell et al 2013 |
| CCDC65 | 12q13.12 | Austin-Tse et al 2013; Horani et al 2013 |
| GAS8 | 16q24.3 | Olbrich et al 2015 |
| CCDC39 | 3q26 | Merveille et al 2011 |
| CCDC40 | 17q25 | Becker-Heck et al 2011 |
| CCNO | 5q11.2 | Wallmeier et al. 2014 |
| MCIDAS | 5q11.2 | Boon et al. 2014 |
| CCDC11 | 18q21.1 | Narasimhan et al.2015 |
| ENKUR | 10p12.1 | Sigg et al. 2017 |