Ciliary Dyskinesia, Primary, 6; Cild6

Clinical Features

Top most frequent phenotypes and symptoms related to Ciliary Dyskinesia, Primary, 6; Cild6

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Dyskinesia
  • Bronchiectasis
  • Sinusitis
  • Situs inversus totalis
  • Ciliary dyskinesia
  • Recurrent sinusitis
  • Chronic sinusitis
  • Abnormal respiratory motile cilium morphology

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Ciliary Dyskinesia, Primary, 6; Cild6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CENPF, CCNO, DNAI2, CFTR, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Bronchiectasis Panel (17 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SCNN1A, SCNN1B, SCNN1G, RSPH1, NME8, DNAI2, CFTR, DNAAF2, RSPH9, RSPH4A, DNAL1, CCDC39, CCDC40, DNAH11, DNAH5, DNAI1, DNAAF1
Specificity
6 %
Genes
100 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

RPGR, BDNF, SCNN1A, SCNN1B, SCNN1G, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, STAT3, TERC, TERT, NKX2-1, TSC1, TSC2, RSPH1, HPS3, HPS4 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
PCDNext.

By Ambry Genetics (United States).

RPGR, SPAG1, NME8, LRRC6, DNAI2, CFTR, DNAAF2, RSPH9, RSPH4A, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Primary Ciliary Dyskinesia Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RPGR, SPAG1, RSPH1, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Primary Ciliary Dyskinesia Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RPGR, SPAG1, RSPH1, NME8, LRRC6, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CCDC39, ARMC4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %

You can get up to 39 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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