Description
Primary ciliary dyskinesia inclusion criteria (29399)
- Evidence of chronic sinopulmonary disease as indicated by symptoms and signs including a life-long, wet sounding cough and nasal symptoms, neonatal respiratory distress and chest radiograph with chronic abnormalities.
- With or without situs inversus totalis or heterotaxy
- With or without infertility
- If over 4 years of age nasal Nitric Oxide testing available
- With high-speed video analysis showing characteristic disordered ciliary motility, or absent cilia on repeat testing
- With transmission electron microscopy results available

Primary ciliary dyskinesia exclusion criteria (29399)

Prior genetic testing guidance (29399)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Primary ciliary dyskinesia prior genetic testing genes (29399)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - DNAH5, DNAH11, CCDC103, CCDC39, CCDC40, DNAI1

Closing statement (29399)
These requirements will be kept under continual review during the main programme and may be subject to change.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Hannah Mitchison (UCL and GOSH)

    Group: GeCIP domain
    Workplace: Research lab

  • Ian Berry (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Simon Thomas (Wessex)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

140 Entities

140 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
140 Entitiess
Green Green List (high evidence)
ARMC4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Tags
Green Green List (high evidence)
C21orf59
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC103
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 17, 614679
Tags
Green Green List (high evidence)
CCDC114
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
Green Green List (high evidence)
CCDC151
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 30, 616037
Tags
Green Green List (high evidence)
CCDC39
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 14, 613807
Tags
Green Green List (high evidence)
CCDC40
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 15, 613808
Tags
Green Green List (high evidence)
CCDC65
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 27, 615504
Tags
Green Green List (high evidence)
CCNO
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 29
Tags
Green Green List (high evidence)
DNAAF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 13, 613193
Tags
Green Green List (high evidence)
DNAAF2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 10, 612518
Tags
Green Green List (high evidence)
DNAAF3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 2, 606763
Tags
Green Green List (high evidence)
DNAAF4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700
Tags
Green Green List (high evidence)
DNAAF5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874
Tags
Green Green List (high evidence)
DNAH11
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
Tags
Green Green List (high evidence)
DNAH5
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Tags
Green Green List (high evidence)
DNAI1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Tags
Green Green List (high evidence)
DNAI2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444
Tags
Green Green List (high evidence)
DNAL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 16, 614017
Tags
Green Green List (high evidence)
DRC1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 21, 615294
Tags
Green Green List (high evidence)
GAS8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Too new - not yet linked to the PCD mutations publication
Tags
Green Green List (high evidence)
HYDIN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 5, 608647
Tags
Green Green List (high evidence)
LRRC6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 19, 614935
Tags
Green Green List (high evidence)
MCIDAS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Too new - not yet linked to the PCD mutations publication
Tags
Green Green List (high evidence)
PIH1D3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • X-linked primary ciliary dyskinesia
  • X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Tags
Green Green List (high evidence)
RPGR
5 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • ciliopathies
Tags
Green Green List (high evidence)
RSPH1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 24, 615481
Tags
Green Green List (high evidence)
RSPH3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 32
Tags
Green Green List (high evidence)
RSPH4A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 11, 612649
Tags
Green Green List (high evidence)
RSPH9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 12, 612650
Tags
Green Green List (high evidence)
SPAG1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 28, 615505
Tags
Green Green List (high evidence)
ZMYND10
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 22, 615444
Tags
Amber Amber List (moderate evidence)
GAS2L2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Primary ciliary dyskinesia
Tags
  • watchlist
Amber Amber List (moderate evidence)
LZTFL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Visceral Heterotaxy
  • Bardet-Biedl Syndrome 17
Tags
  • watchlist
Red Red List (low evidence)
ACVR2B
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
ADGRV1
2 reviews
1 red
Unknown
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
AGPAT2
1 review
1 red
Unknown
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome
Tags
Red Red List (low evidence)
AHI1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
AIPL1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
ARL13B
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
ARL6
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
B9D1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
B9D2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
BBS1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
BBS10
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
BBS12
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
BBS2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
BBS4
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
BBS5
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
BBS7
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
BBS9
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
C2orf71
3 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
  • new-gene-name
Red Red List (low evidence)
C5orf42
3 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
  • new-gene-name
Red Red List (low evidence)
CC2D2A
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CCDC28B
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CDH23
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CENPF
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Leeds Genetics Laboratory
Phenotypes
  • Ciliary dyskinesia, primary, 31, 616369
Tags
Red Red List (low evidence)
CEP164
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CEP290
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CEP41
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CEP55
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Meckel-like syndrome
Tags
Red Red List (low evidence)
CFTR
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CLRN1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CRB1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CRELD1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
CRX
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
DNAH1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Too new - not yet linked to the PCD mutations publication
Tags
Red Red List (low evidence)
DNAH8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Leeds Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
DYNC2H1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
EVC
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
EVC2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
FOXH1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
GDF1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
GLIS2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
GUCY2D
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
HYLS1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
IFT43
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
IFT80
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
IMPDH1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
INVS
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
IQCB1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
KCNJ13
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
KIF7
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
LCA5
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
LEFTY2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
LRAT
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
LRRC56
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Leeds Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
MKKS
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
MKS1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
MYO7A
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
NEK1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
NEK8
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
NKX2-5
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
NME8
4 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 6, 610852
Tags
Red Red List (low evidence)
NODAL
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
NPHP1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
NPHP3
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
NPHP4
3 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
OFD1
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
PCDH15
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
PKD2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
PKHD1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
RD3
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
RDH12
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
RPE65
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
RPGRIP1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
RPGRIP1L
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
SCNN1A
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
SCNN1B
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
SCNN1G
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
SDCCAG8
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
SPATA7
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TCTN1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TCTN2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TMEM138
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TMEM216
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TMEM231
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TMEM237
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TMEM67
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TOPORS
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TRIM32
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TSC1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TSC2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TTC21B
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TTC8
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
TULP1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
UMOD
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
USH1C
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
USH1G
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
USH2A
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
VHL
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
WDPCP
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
WDR19
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
WDR35
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
WHRN
3 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
XPNPEP3
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
ZIC3
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
Red Red List (low evidence)
ZNF423
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Tags
No list No list
ATXN10
3 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • ciliopathies
Tags
  • nucleotide-repeat-expansion
No list No list
DNAH9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags

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