Description
This panel is used for clinical indication 'R189 Respiratory ciliopathies including non-CF bronchiectasis' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R189 Respiratory ciliopathies including non-CF bronchiectasis'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/550/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (05/11/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • 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

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

62 Entities

62 reviewed, 46 green

List Entity Reviews Mode of inheritance Details
62 Entitiess
Green Green List (high evidence)
ARMC4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Tags
Green Green List (high evidence)
C11orf70
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 38, 618063
Tags
  • new-gene-name
Green Green List (high evidence)
C21orf59
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC103
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
  • Primary Ciliary Dyskinesia
Tags
Green Green List (high evidence)
CCDC114
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
Green Green List (high evidence)
CCDC151
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 30, 616037
Tags
Green Green List (high evidence)
CCDC39
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
Tags
Green Green List (high evidence)
CCDC40
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 15, 613808
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
Tags
Green Green List (high evidence)
CCDC65
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 27, 615504
Tags
Green Green List (high evidence)
CCNO
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 29
Tags
Green Green List (high evidence)
CFTR
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cystic Fibrosis
  • Ciliopathies
  • Congenital bilateral absence of vas deferens, 277180
  • Sweat chloride elevation without CF
  • {Hypertrypsinemia, neonatal}
  • Cystic fibrosis, 219700
  • {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400
  • Bronchiectasis
  • {Pancreatitis, idiopathic}, 167800
Tags
Green Green List (high evidence)
DNAAF1
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
Tags
Green Green List (high evidence)
DNAAF2
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
  • Ciliary dyskinesia, primary, 10, 612518
Tags
Green Green List (high evidence)
DNAAF3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 2, 606763
Tags
Green Green List (high evidence)
DNAAF4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700
Tags
Green Green List (high evidence)
DNAAF5
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874
Tags
Green Green List (high evidence)
DNAH11
6 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
Tags
Green Green List (high evidence)
DNAH5
6 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Tags
Green Green List (high evidence)
DNAH9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
DNAI1
7 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
Tags
Green Green List (high evidence)
DNAI2
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
Tags
Green Green List (high evidence)
DNAJB13
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 34, 617091
Tags
Green Green List (high evidence)
DNAL1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 16, 614017
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
Tags
Green Green List (high evidence)
DRC1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 21, 615294
Tags
Green Green List (high evidence)
GAS8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
HYDIN
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 5, 608647
Tags
Green Green List (high evidence)
LRRC56
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliopathies
Tags
Green Green List (high evidence)
LRRC6
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 19, 614935
  • Primary Ciliary Dyskinesia
Tags
Green Green List (high evidence)
MCIDAS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
NFKB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency, common variable, 12, 616576
  • Recurrent sinopulmonary infections
Tags
Green Green List (high evidence)
NFKB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency, common variable, 10, 615577
  • Bronchiectasis
Tags
Green Green List (high evidence)
PIH1D3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • X-linked primary ciliary dyskinesia
  • X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Tags
Green Green List (high evidence)
PIK3CD
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency 14, 615513
  • Bronchiectasis
Tags
Green Green List (high evidence)
PIK3R1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency 36, 616005
  • Bronchiectasis
Tags
Green Green List (high evidence)
RAG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined immunodeficiency (CID)
  • Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A)
  • early onset and progressive lung disease
Tags
Green Green List (high evidence)
RAG2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined immunodeficiency (CID)
  • Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A)
  • early onset and progressive lung disease
Tags
Green Green List (high evidence)
RSPH1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 24, 615481
Tags
Green Green List (high evidence)
RSPH3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 32, 616481
Tags
Green Green List (high evidence)
RSPH4A
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • sinusitis
  • chronic wet cough
  • nasal symptoms
  • rhinorrhea
  • recurrent respiratory infections
  • Primary Ciliary Dyskinesia
  • rhinitis
  • Reduced exercise tolerance
  • otitis media
  • nasal blockage
  • Bronchiectasis
  • short stature
  • deafness
  • glue ear
  • low weight
  • hearing problems
  • Ciliary dyskinesia, primary, 11, 612649
Tags
Green Green List (high evidence)
RSPH9
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 12, 612650
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
Tags
Green Green List (high evidence)
SCNN1A
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliopathies
  • Bronchiectasis
  • Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 2, 613021
Tags
Green Green List (high evidence)
SCNN1B
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliopathies
  • Non-Classic Cystic Fibrosis-Like Syndrome
  • Pseudohypoaldosteronism, type I, 264350
  • Liddle syndrome, 177200
  • Bronchiectasis with or without elevated sweat chloride 1, 211400
  • Bronchiectasis
Tags
Green Green List (high evidence)
SCNN1G
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Liddle syndrome, 177200
  • Ciliopathies
  • Bronchiectasis
  • Bronchiectasis with or without elevated sweat chloride 3, 613071
  • Pseudohypoaldosteronism, type I, 264350
Tags
Green Green List (high evidence)
SPAG1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 28, 615505
Tags
Green Green List (high evidence)
TTC25
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary 35, 617092
Tags
Green Green List (high evidence)
ZMYND10
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 22, 615444
Tags
Amber Amber List (moderate evidence)
CFAP46
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CFAP54
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
DNAH1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Too new - not yet linked to the PCD mutations publication
Tags
Amber Amber List (moderate evidence)
DNAH6
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
DNAH8
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliopathies
Tags
  • watchlist
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)
OFD1
4 reviews
3 red
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliopathies
Tags
Amber Amber List (moderate evidence)
RPGR
5 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliopathies
Tags
Amber Amber List (moderate evidence)
STK36
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
TAPT1
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Red Red List (low evidence)
AGPAT2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome
Tags
Red Red List (low evidence)
CENPF
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 31, 616369
Tags
Red Red List (low evidence)
NME8
8 reviews
3 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 6, 610852
  • Bronchiectasis
Tags
Red Red List (low evidence)
ORMDL3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
SPAG17
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
No list No list
FOXJ1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Motile ciliopathy
  • situs inversus, hydrocephalus
Tags

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