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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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.

20 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

  • 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

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Gabrielle Wheway (University of Southampton)

    Group: GeCIP domain
    Workplace: Research lab

  • Steven Cowman (Bristol Royal Infirmary)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

77 Entities

77 reviewed, 48 green

List Entity Reviews Mode of inheritance Details
77 Entitiess
Green Green List (high evidence)
AGR2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cystic fibrosis-like syndrome
  • chronic diarrhoea
Tags
Green Green List (high evidence)
ARMC4
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Tags
  • new-gene-name
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
  • gene-checked
  • 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
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC151
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 30, 616037
Tags
  • new-gene-name
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
6 reviews
2 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)
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
  • Ciliary dyskinesia, primary, 39, OMIM:618254
  • Ciliary dyskinesia, primary, 39, MONDO:0032637
Tags
  • gene-checked
Green Green List (high evidence)
LRRC6
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 19, 614935
  • Primary Ciliary Dyskinesia
Tags
  • new-gene-name
Green Green List (high evidence)
MCIDAS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872
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)
OFD1
7 reviews
2 green 3 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliopathies
  • Primary ciliary dyskinesia
  • Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209, MONDO:0010265
Tags
Green Green List (high evidence)
PIH1D3
3 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
  • new-gene-name
Green Green List (high evidence)
PIK3CD
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency 14A, autosomal dominant, OMIM: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)
RPGR
8 reviews
4 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliopathies
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, OMIM:300455
  • primary ciliary dyskinesia-retinitis pigmentosa syndrome, MONDO:0010330
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
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 35, OMIM:617092
Tags
  • new-gene-name
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)
BRWD1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ciliary dyskinesia, asthenoteratozoospermia
Tags
Amber Amber List (moderate evidence)
CFAP74
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ciliary dyskinesia
  • infertility
Tags
  • watchlist
Amber Amber List (moderate evidence)
DAW1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • motile ciliopathy laterality disorder
Tags
  • gene-checked
  • Q4_22_MOI
  • Q4_22_promote_green
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)
DNAJB13
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 34, OMIM:617091, MONDO:0014909
Tags
  • watchlist
Amber Amber List (moderate evidence)
FOXJ1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 43, OMIM:618699, MONDO:0032874
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
  • watchlist
Amber Amber List (moderate evidence)
GAS2L2
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Primary ciliary dyskinesia
Tags
  • watchlist
Amber Amber List (moderate evidence)
NEK10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Ciliary dyskinesia, primary, 44, OMIM:618781, MONDO:0032914
Tags
  • watchlist
Amber Amber List (moderate evidence)
NME5
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
  • watchlist
Amber Amber List (moderate evidence)
SPEF2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spermatogenic failure 43, OMIM:618751, MONDO:0032898
  • Primary ciliary dyskinesia-like phenotype
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
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
Amber Amber List (moderate evidence)
TTC12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Ciliary dyskinesia, primary, 45, OMIM:618801
  • MONDO:0032924
Tags
  • watchlist
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)
AKNA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary ciliary dyskinesia
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)
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)
CFAP46
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Heterotaxy
Tags
Red Red List (low evidence)
CFAP54
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
CFAP57
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
GOLGA3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
IFT140
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920
Tags
Red Red List (low evidence)
ITCH
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Autoimmune disease, multisystem, with facial dysmorphism OMIM:613385
  • syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
  • primary ciliary dyskinesia
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)
PLK4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171
  • microcephaly and chorioretinopathy 2 MONDO:0014516
Tags
Red Red List (low evidence)
SPAG17
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags

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