Primary ciliary disorders (Version 1.42)

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.

Panel Activity

17 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
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Simon Thomas (Wessex)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Zerin Hyder (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Amelia Shoemark (Royal Brompton Hospital)

Group: GeCIP domain
Workplace: Research lab

144 Entities

144 reviewed, 34 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 144 Entitiess
Green Green List (high evidence)	ARMC4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ciliary dyskinesia, primary, 23, 615451 Tags new-gene-name
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	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Green Green List (high evidence)	CCDC151	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ciliary dyskinesia, primary, 30, 616037 Tags new-gene-name
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)	GAS2L2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Primary ciliary dyskinesia ?Ciliary dyskinesia, primary, 41 618449 Tags watchlist
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	3 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 new-gene-name
Green Green List (high evidence)	MCIDAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872 Tags
Green Green List (high evidence)	NEK10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Ciliary dyskinesia, primary, 44, OMIM:618781 Tags
Green Green List (high evidence)	PIH1D3	2 reviews	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 new-gene-name
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)	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 Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Red Red List (low evidence)	B9D2	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 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)	CFAP221	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Primary ciliary dyskinesia, MONDO:0016575 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 Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 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	4 reviews 1 green 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	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 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	4 reviews 1 red	Other	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Ciliopathies Tags curated_removed currently-ngs-unreportable nucleotide-repeat-expansion
No list No list	DNAH9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Tags
No list No list	SPEF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Spermatogenic failure 43, MIM#618751 Primary ciliary dyskinesia-like phenotype Tags
No list No list	TTC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Ciliary dyskinesia Tags

Major version comments

See also Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child. 2014 Sep;99(9):850-6.

Primary ciliary disorders (Version 1.42)

17 reviewers

144 Entities

144 reviewed, 34 green

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