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Respiratory ciliopathies including non-CF bronchiectasis v3.9 SPEF2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SPEF2.
Tag Q4_23_NHS_review tag was added to gene: SPEF2.
Respiratory ciliopathies including non-CF bronchiectasis v3.9 SPEF2 Achchuthan Shanmugasundram Classified gene: SPEF2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.9 SPEF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman, there is sufficient evidence available for this gene to be promoted to green rating in the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v3.9 SPEF2 Achchuthan Shanmugasundram Gene: spef2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.8 NME5 Achchuthan Shanmugasundram Classified gene: NME5 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.8 NME5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated cases and zebrafish model) for the promotion of this gene to green rating in the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v3.8 NME5 Achchuthan Shanmugasundram Gene: nme5 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.7 NME5 Achchuthan Shanmugasundram Phenotypes for gene: NME5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032
Respiratory ciliopathies including non-CF bronchiectasis v3.6 NME5 Achchuthan Shanmugasundram Publications for gene: NME5 were set to 32185794; 31479451
Respiratory ciliopathies including non-CF bronchiectasis v3.5 NME5 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NME5.
Tag Q4_23_NHS_review tag was added to gene: NME5.
Respiratory ciliopathies including non-CF bronchiectasis v3.5 NME5 Achchuthan Shanmugasundram changed review comment from: Two unrelated cases were reported with biallelic NME5 variants. One patient was homozygous for p.Trp191Ter variant, while other was compound heterozygous with the same variant and p.Tyr160PhefsTer11. In addition, morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.; to: Two unrelated cases were reported with biallelic NME5 variants. One patient was homozygous for p.Trp191Ter variant, while other was compound heterozygous with the same variant and p.Tyr160PhefsTer11. In addition, morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.

This gene has been associated with relevant phenotypes in both OMIM (MIM #620032) and Gene2Phenotype (with 'definitive' rating in the DD panel).
Respiratory ciliopathies including non-CF bronchiectasis v3.5 NME5 Achchuthan Shanmugasundram reviewed gene: NME5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32185794, 37957793; Phenotypes: Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.5 FOXJ1 Achchuthan Shanmugasundram Classified gene: FOXJ1 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.5 FOXJ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Respiratory ciliopathies including non-CF bronchiectasis v3.5 FOXJ1 Achchuthan Shanmugasundram Gene: foxj1 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.4 FOXJ1 Achchuthan Shanmugasundram Publications for gene: FOXJ1 were set to 31630787
Respiratory ciliopathies including non-CF bronchiectasis v3.3 FOXJ1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FOXJ1.
Tag Q4_23_NHS_review tag was added to gene: FOXJ1.
Respiratory ciliopathies including non-CF bronchiectasis v3.3 FOXJ1 Achchuthan Shanmugasundram reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v3.3 FOXJ1 Steven Cowman reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787, 37469238, 37813609; Phenotypes: Motile ciliopathy, situs inversus, hydrocephalus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v3.3 NME5 Steven Cowman reviewed gene: NME5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37957793; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.3 SPEF2 Steven Cowman reviewed gene: SPEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31942643, 31942643, 31545650; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.3 SPEF2 Steven Cowman Deleted their review
Respiratory ciliopathies including non-CF bronchiectasis v3.3 SPEF2 Steven Cowman reviewed gene: SPEF2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31942643; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v3.1 DAW1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1.
Respiratory ciliopathies including non-CF bronchiectasis v3.1 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1
Respiratory ciliopathies including non-CF bronchiectasis v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Respiratory ciliopathies including non-CF bronchiectasis v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Respiratory ciliopathies including non-CF bronchiectasis v2.3 BRWD1 Sarah Leigh Tag Q2_21_rating was removed from gene: BRWD1.
Respiratory ciliopathies including non-CF bronchiectasis v2.3 AGR2 Sarah Leigh Tag Q1_22_rating was removed from gene: AGR2.
Respiratory ciliopathies including non-CF bronchiectasis v2.3 BRWD1 Sarah Leigh reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v2.3 AGR2 Sarah Leigh reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v2.2 AGR2 Sarah Leigh Source Expert Review Green was added to AGR2.
Source NHS GMS was added to AGR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30
Respiratory ciliopathies including non-CF bronchiectasis v2.0 Arina Puzriakova promoted panel to version 2.0
Respiratory ciliopathies including non-CF bronchiectasis v1.61 DAW1 Sarah Leigh changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review according to the recommendations from Helen Brittain (Genomics England, Clinical Fellow).
Respiratory ciliopathies including non-CF bronchiectasis v1.61 DAW1 Sarah Leigh Classified gene: DAW1 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.61 DAW1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Respiratory ciliopathies including non-CF bronchiectasis v1.61 DAW1 Sarah Leigh Gene: daw1 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.60 DAW1 Sarah Leigh Classified gene: DAW1 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.60 DAW1 Sarah Leigh Gene: daw1 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.59 DAW1 Sarah Leigh changed review comment from: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder.
Sources: Literature; to: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. Supportive functional studies and a mouse model were also reported in PMID: 36074124.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.59 DAW1 Sarah Leigh gene: DAW1 was added
gene: DAW1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Q4_22_MOI, Q4_22_promote_green tags were added to gene: DAW1.
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124; 28991257
Phenotypes for gene: DAW1 were set to motile ciliopathy laterality disorder
Review for gene: DAW1 was set to GREEN
Added comment: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.58 TTC25 Arina Puzriakova Phenotypes for gene: TTC25 were changed from Ciliary dyskinesia, primary 35, 617092 to Ciliary dyskinesia, primary, 35, OMIM:617092
Respiratory ciliopathies including non-CF bronchiectasis v1.57 TTC25 Arina Puzriakova Publications for gene: TTC25 were set to 27486780
Respiratory ciliopathies including non-CF bronchiectasis v1.56 PIH1D3 Arina Puzriakova commented on gene: PIH1D3
Respiratory ciliopathies including non-CF bronchiectasis v1.56 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Respiratory ciliopathies including non-CF bronchiectasis v1.56 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
Respiratory ciliopathies including non-CF bronchiectasis v1.56 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
Respiratory ciliopathies including non-CF bronchiectasis v1.56 PIK3CD Arina Puzriakova Phenotypes for gene: PIK3CD were changed from Immunodeficiency 14, 615513; Bronchiectasis to Immunodeficiency 14A, autosomal dominant, OMIM:615513; Bronchiectasis
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong Tag for-review was removed from gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong Tag for-review was removed from gene: CFAP46.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong Tag for-review was removed from gene: DNAJB13.
Tag watchlist tag was added to gene: DNAJB13.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong changed review comment from: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."; to: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong Tag for-review was removed from gene: FOXJ1.
Tag watchlist tag was added to gene: FOXJ1.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 OFD1 Ivone Leong Tag for-review was removed from gene: OFD1.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong Tag for-review was removed from gene: TTC12.
Tag watchlist tag was added to gene: TTC12.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong Tag for-review was removed from gene: NEK10.
Tag watchlist tag was added to gene: NEK10.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong Tag for-review was removed from gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 RPGR Ivone Leong Tag for-review was removed from gene: RPGR.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong commented on gene: CFAP54: Submitted on behalf of NHS GMS "We have been sequencing this gene for the past 2-3 years and have not yet found a clearly pathogenic variant. A number of truncating variants were identified in CFAP54 in the 100K project, but in patients with diagnoses other than PCD and loss of function does not appear to be a disease mechanism for this gene."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong commented on gene: CFAP46: Submitted on behalf of NHS GMS "We have been sequencing this gene for the past 2-3 years and have not yet found a clearly pathogenic variant in any PCD patients."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong commented on gene: DNAJB13: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong commented on gene: TTC12: Submitted on behalf of NHS GMS "Only 6 variants in HGMD, all from the one study Thomas et al. Again as in NKE10 its not clear that full variant analysis has been done to ACGS standard, e.g. the homozygous variant c.1700T>G being described as pathogenic appear to be based on PM2 but has low frequency in gnomad and parents are related, PP3, PM1 (tricky to use in a new assocaited gene), and PS3 for study showing reduced TTC12. There is clearly strong evidence in this particular study but would argue that its too soon for inclusion in a diagnostic panel, but warrants further study. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong commented on gene: NEK10: Submitted on behalf of NHS GMS "Evidence is from one study, and is not clear that full variant analysis has been done on the variants, e.g. the homozygous missense c.2243C>T described as pathogenic based on PM2, conserved amino acid and familial segregation but according to the relevant pedigree for kindred 3 (extended data fig 1 g) there are only 2 affected individuals, one of which is the proband, and this is in a consanguineous family, we would not classify this as pathogenic according to ACGS criteria. Limited varaints reported in HGMD. As above, this gene would warrant further research but too soon for inclusion on routine diagnostic testing. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong commented on gene: GAS2L2: Submitted on behalf of NHS GMS "There is limited evidence. Quoted study has not done detailed familial segregation, only 2 unrelated individuals, but each had a variant in common. I do not see that we will be able to classify variants as pathogenic without further evidence. Only 8 variants in HGMD, 6 of uncertain significancen and 2 pathogenic (both from Bustamante-Marin). This gene would benefit from further research, it may be too early to be used diagnostically. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong commented on gene: CFAP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong commented on gene: CFAP46: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong commented on gene: DNAJB13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong commented on gene: FOXJ1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 OFD1 Ivone Leong commented on gene: OFD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong commented on gene: TTC12: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong commented on gene: NEK10: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong commented on gene: GAS2L2
Respiratory ciliopathies including non-CF bronchiectasis v1.55 RPGR Ivone Leong commented on gene: RPGR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.54 CFAP54 Ivone Leong Source Expert Review Red was added to CFAP54.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 CFAP46 Ivone Leong Source Expert Review Red was added to CFAP46.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 DNAJB13 Ivone Leong Source Expert Review Amber was added to DNAJB13.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 OFD1 Ivone Leong Source Expert Review Green was added to OFD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 RPGR Ivone Leong Source Expert Review Green was added to RPGR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.53 AGR2 Ivone Leong Tag Q1_22_rating tag was added to gene: AGR2.
Respiratory ciliopathies including non-CF bronchiectasis v1.53 AGR2 Ivone Leong Classified gene: AGR2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.53 AGR2 Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green.
Respiratory ciliopathies including non-CF bronchiectasis v1.53 AGR2 Ivone Leong Gene: agr2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.52 AGR2 Ivone Leong Phenotypes for gene: AGR2 were changed from CF-like syndrome to Cystic fibrosis-like syndrome; chronic diarrhoea
Respiratory ciliopathies including non-CF bronchiectasis v1.51 AGR2 Ivone Leong Publications for gene: AGR2 were set to PMID: 34952832
Respiratory ciliopathies including non-CF bronchiectasis v1.50 AGR2 Dmitrijs Rots gene: AGR2 was added
gene: AGR2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGR2 were set to PMID: 34952832
Phenotypes for gene: AGR2 were set to CF-like syndrome
Penetrance for gene: AGR2 were set to Complete
Review for gene: AGR2 was set to GREEN
Added comment: 13 individuals reported in PMID: 34952832 with Cystic fibrosis -like syndrome, including with respiratory infections, bronchiectasis etc. Ciliary abnormalities are reported, but authors suggest that they are likely secondary, similarly to CF.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.50 IFT140 Sarah Leigh changed review comment from: Two IFT140 variants reported in a case of primary ciliary dyskinesia (PMID 34556108).
Sources: Literature; to: Two rare missense IFT140 variants (p.Leu693Phe & p.Lys390Arg) reported in a case of primary ciliary dyskinesia, both variats predicted to be benign by Polyphen & SIFT (PMID 34556108).
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.50 IFT140 Sarah Leigh gene: IFT140 was added
gene: IFT140 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT140 were set to 34556108
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920
Review for gene: IFT140 was set to RED
Added comment: Two IFT140 variants reported in a case of primary ciliary dyskinesia (PMID 34556108).
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.49 PLK4 Sarah Leigh Publications for gene: PLK4 were set to 22503633; 34556108
Respiratory ciliopathies including non-CF bronchiectasis v1.48 PLK4 Sarah Leigh gene: PLK4 was added
gene: PLK4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK4 were set to 22503633; 34556108
Phenotypes for gene: PLK4 were set to Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171; microcephaly and chorioretinopathy 2 MONDO:0014516
Review for gene: PLK4 was set to RED
Added comment: Two PLK4 variants reported in a case of primary ciliary dyskinesia (PMID: 34556108).
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.47 CFAP221 Ivone Leong Phenotypes for gene: CFAP221 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575
Respiratory ciliopathies including non-CF bronchiectasis v1.46 CFAP221 Ivone Leong Classified gene: CFAP221 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.46 CFAP221 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is currently not associated with a phenotype in OMIM and Gene2Phenotype. There is not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.46 CFAP221 Ivone Leong Gene: cfap221 has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.45 CFAP221 Zornitza Stark gene: CFAP221 was added
gene: CFAP221 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP221 were set to 31636325
Phenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia
Review for gene: CFAP221 was set to RED
Added comment: WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.45 BRWD1 Ivone Leong Classified gene: BRWD1 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.45 BRWD1 Ivone Leong Gene: brwd1 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.44 BRWD1 Ivone Leong gene: BRWD1 was added
gene: BRWD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Q2_21_rating tags were added to gene: BRWD1.
Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRWD1 were set to 33389130
Phenotypes for gene: BRWD1 were set to Primary ciliary dyskinesia, asthenoteratozoospermia
Review for gene: BRWD1 was set to GREEN
Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene was added to the Laterality disorders and isomerism (Version 1.44) panel by Zornitza Stark with the following review:

"Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-like" symptoms of reccurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls). Sources: Literature
Zornitza Stark (Australian Genomics), 7 Feb 2021"

After discussion with the Genomics England Clinical Team it was decided that this gene was better suited to this panel.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.43 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 TTC25 Catherine Snow commented on gene: TTC25
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CCDC151 Catherine Snow commented on gene: CCDC151
Respiratory ciliopathies including non-CF bronchiectasis v1.43 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 ARMC4 Catherine Snow commented on gene: ARMC4
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CCDC114 Catherine Snow commented on gene: CCDC114
Respiratory ciliopathies including non-CF bronchiectasis v1.43 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 LRRC6 Catherine Snow commented on gene: LRRC6
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CFTR Matthew Edwards reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v1.43 LRRC56 Arina Puzriakova Phenotypes for gene: LRRC56 were changed from Ciliopathies to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637
Respiratory ciliopathies including non-CF bronchiectasis v1.42 RPGR Gabrielle Wheway changed review comment from: Although few cases of PCD associated with RPGR variants have been published, the PCD diagnostic centre at University Hospital Southampton has diagnosed 5 cases of PCD where RPGR missense variants have been judged to be the cause of disease. 4 cases have stop gains in RPGR, 3 of whom had PCD diagnosed before eye disease and 1 of whom is an adult whose wet cough and rhinitis started in very early childhood before eye symptoms, but was diagnosed with RP before PCD (due to late referral for PCD rather than lack of symptoms). i.e. in all cases lung disease preceded eye disease. 1 case has a pathogenic missense mutation and is an adult who only has PCD, no eye disease. I am submitting this review as a researcher who works closely with the diagnostic service at UHS and Wessex Clinical Genetics Lab. The fact that RPGR has been downgraded to Amber was raised at our recent PCD genetics MDT and Prof Jane Lucas, who leads the diagnostic service at UHS asked me to submit a review to provide support for this gene being a 'Green' gene.
; to: Although few cases of PCD associated with RPGR variants have been published, the PCD diagnostic centre at University Hospital Southampton has diagnosed 5 cases of PCD where RPGR variants have been judged to be the cause of disease. 4 cases have stop gains in RPGR, 3 of whom had PCD diagnosed before eye disease and 1 of whom is an adult whose wet cough and rhinitis started in very early childhood before eye symptoms, but was diagnosed with RP before PCD (due to late referral for PCD rather than lack of symptoms). i.e. in all cases lung disease preceded eye disease. 1 case has a pathogenic missense mutation and is an adult who only has PCD, no eye disease. I am submitting this review as a researcher who works closely with the diagnostic service at UHS and Wessex Clinical Genetics Lab. The fact that RPGR has been downgraded to Amber was raised at our recent PCD genetics MDT and Prof Jane Lucas, who leads the diagnostic service at UHS asked me to submit a review to provide support for this gene being a 'Green' gene.
Respiratory ciliopathies including non-CF bronchiectasis v1.42 RPGR Gabrielle Wheway changed review comment from: Although few cases of PCD have been reported associated with RPGR variants, the PCD diagnostic centre at University Hospital Southampton has diagnosed a number of PCD cases where RPGR missense variants have been judged to be the cause of disease. At least one of these cases is isolated PCD, with no evidence of RP (the patient has been seen by the eye clinic). I am submitting this review as a researcher who works closely with the diagnostic service at UHS and Wessex Clinical Genetics Lab. The fact that RPGR has been downgraded to Amber was raised at our recent PCD genetics MDT and Prof Jane Lucas, who leads the diagnostic service at UHS asked me to submit a review to provide support for this gene being a 'Green' gene. Prof Lucas will register as a PanelApp reviewer to add additional detail.; to: Although few cases of PCD associated with RPGR variants have been published, the PCD diagnostic centre at University Hospital Southampton has diagnosed 5 cases of PCD where RPGR missense variants have been judged to be the cause of disease. 4 cases have stop gains in RPGR, 3 of whom had PCD diagnosed before eye disease and 1 of whom is an adult whose wet cough and rhinitis started in very early childhood before eye symptoms, but was diagnosed with RP before PCD (due to late referral for PCD rather than lack of symptoms). i.e. in all cases lung disease preceded eye disease. 1 case has a pathogenic missense mutation and is an adult who only has PCD, no eye disease. I am submitting this review as a researcher who works closely with the diagnostic service at UHS and Wessex Clinical Genetics Lab. The fact that RPGR has been downgraded to Amber was raised at our recent PCD genetics MDT and Prof Jane Lucas, who leads the diagnostic service at UHS asked me to submit a review to provide support for this gene being a 'Green' gene.
Respiratory ciliopathies including non-CF bronchiectasis v1.42 RPGR Gabrielle Wheway reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 16055928, PMID: 22888088; Phenotypes: primary ciliary dyskinesia, non-CF bronchiectasis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Respiratory ciliopathies including non-CF bronchiectasis v1.42 MCIDAS Ivone Leong Phenotypes for gene: MCIDAS were changed from to Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872
Respiratory ciliopathies including non-CF bronchiectasis v1.41 SPEF2 Ivone Leong Classified gene: SPEF2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.41 SPEF2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM. As respiratory phenotype is not in all affected individuals, this gene has been given an Amber rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.41 SPEF2 Ivone Leong Gene: spef2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.40 SPEF2 Ivone Leong Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype to Spermatogenic failure 43, OMIM:618751, MONDO:0032898; Primary ciliary dyskinesia-like phenotype
Respiratory ciliopathies including non-CF bronchiectasis v1.39 DNAJB13 Ivone Leong reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.39 DNAJB13 Ivone Leong Tag for-review tag was added to gene: DNAJB13.
Respiratory ciliopathies including non-CF bronchiectasis v1.39 DNAJB13 Ivone Leong Publications for gene: DNAJB13 were set to
Respiratory ciliopathies including non-CF bronchiectasis v1.38 DNAJB13 Ivone Leong Phenotypes for gene: DNAJB13 were changed from Ciliary dyskinesia, primary, 34, 617091 to Ciliary dyskinesia, primary, 34, OMIM:617091, MONDO:0014909
Respiratory ciliopathies including non-CF bronchiectasis v1.37 TTC12 Ivone Leong Classified gene: TTC12 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.37 TTC12 Ivone Leong Gene: ttc12 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.36 TTC12 Ivone Leong Classified gene: TTC12 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.36 TTC12 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Respiratory ciliopathies including non-CF bronchiectasis v1.36 TTC12 Ivone Leong Gene: ttc12 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.35 TTC12 Ivone Leong Tag for-review tag was added to gene: TTC12.
Respiratory ciliopathies including non-CF bronchiectasis v1.35 TTC12 Ivone Leong Phenotypes for gene: TTC12 were changed from Ciliary dyskinesia to Ciliary dyskinesia, primary, 45, OMIM:618801; MONDO:0032924
Respiratory ciliopathies including non-CF bronchiectasis v1.34 FOXJ1 Ivone Leong Classified gene: FOXJ1 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.34 FOXJ1 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Respiratory ciliopathies including non-CF bronchiectasis v1.34 FOXJ1 Ivone Leong Gene: foxj1 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.33 FOXJ1 Ivone Leong Tag for-review tag was added to gene: FOXJ1.
Respiratory ciliopathies including non-CF bronchiectasis v1.33 FOXJ1 Ivone Leong Phenotypes for gene: FOXJ1 were changed from Motile ciliopathy; situs inversus, hydrocephalus to Ciliary dyskinesia, primary, 43, OMIM:618699, MONDO:0032874
Respiratory ciliopathies including non-CF bronchiectasis v1.32 NEK10 Ivone Leong Tag for-review tag was added to gene: NEK10.
Respiratory ciliopathies including non-CF bronchiectasis v1.32 NEK10 Ivone Leong Classified gene: NEK10 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.32 NEK10 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at next review.
Respiratory ciliopathies including non-CF bronchiectasis v1.32 NEK10 Ivone Leong Gene: nek10 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.31 NEK10 Ivone Leong Added comment: Comment on publications: PMID: 32414360 is an additional case
Respiratory ciliopathies including non-CF bronchiectasis v1.31 NEK10 Ivone Leong Publications for gene: NEK10 were set to 31959991
Respiratory ciliopathies including non-CF bronchiectasis v1.30 NEK10 Ivone Leong Phenotypes for gene: NEK10 were changed from Ciliary dyskinesia, primary, 44, MIM# 618781 to Ciliary dyskinesia, primary, 44, OMIM:618781, MONDO:0032914
Respiratory ciliopathies including non-CF bronchiectasis v1.29 RPGR Ivone Leong edited their review of gene: RPGR: Added comment: This gene is associated with an appropriate phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.; Changed rating: GREEN
Respiratory ciliopathies including non-CF bronchiectasis v1.29 RPGR Ivone Leong Tag for-review tag was added to gene: RPGR.
Respiratory ciliopathies including non-CF bronchiectasis v1.29 RPGR Ivone Leong Added comment: Comment on publications: PMID: 22888088 and 14627685 are extra cases
Respiratory ciliopathies including non-CF bronchiectasis v1.29 RPGR Ivone Leong Publications for gene: RPGR were set to 10094550; 12920075; 16055928
Respiratory ciliopathies including non-CF bronchiectasis v1.28 RPGR Ivone Leong Phenotypes for gene: RPGR were changed from Ciliopathies to Ciliopathies; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, OMIM:300455; primary ciliary dyskinesia-retinitis pigmentosa syndrome, MONDO:0010330
Respiratory ciliopathies including non-CF bronchiectasis v1.27 RPGR Ivone Leong Publications for gene: RPGR were set to
Respiratory ciliopathies including non-CF bronchiectasis v1.26 CFAP46 Ivone Leong reviewed gene: CFAP46: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.26 CFAP46 Ivone Leong Tag for-review tag was added to gene: CFAP46.
Respiratory ciliopathies including non-CF bronchiectasis v1.26 CFAP46 Ivone Leong Phenotypes for gene: CFAP46 were changed from to Heterotaxy
Respiratory ciliopathies including non-CF bronchiectasis v1.25 CFAP46 Ivone Leong Publications for gene: CFAP46 were set to
Respiratory ciliopathies including non-CF bronchiectasis v1.24 CFAP54 Ivone Leong Tag for-review tag was added to gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v1.24 CFAP54 Ivone Leong reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.24 CFAP54 Ivone Leong Publications for gene: CFAP54 were set to
Respiratory ciliopathies including non-CF bronchiectasis v1.23 CFAP57 Ivone Leong Classified gene: CFAP57 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.23 CFAP57 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype and based on the available evidence this gene has been given a Red rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.23 CFAP57 Ivone Leong Gene: cfap57 has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.22 CFAP57 Ivone Leong Added comment: Comment on publications: bioRxiv 773028 doi: https://doi.org/10.1101/773028 has now been published and is PMID: 32764743
Respiratory ciliopathies including non-CF bronchiectasis v1.22 CFAP57 Ivone Leong Publications for gene: CFAP57 were set to 32764743
Respiratory ciliopathies including non-CF bronchiectasis v1.21 CFAP57 Ivone Leong Publications for gene: CFAP57 were set to bioRxiv 773028 doi: https://doi.org/10.1101/773028
Respiratory ciliopathies including non-CF bronchiectasis v1.20 ITCH Ivone Leong Classified gene: ITCH as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.20 ITCH Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. Based on the available evidence this gene has been given a Red rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.20 ITCH Ivone Leong Gene: itch has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.19 ITCH Ivone Leong Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism 613385; primary ciliary dyskinesia to Autoimmune disease, multisystem, with facial dysmorphism OMIM:613385; syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis v1.18 GOLGA3 Ivone Leong Classified gene: GOLGA3 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.18 GOLGA3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the available evidence this gene has been given a Red rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.18 GOLGA3 Ivone Leong Gene: golga3 has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.17 AKNA Ivone Leong Classified gene: AKNA as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.17 AKNA Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the available evidence this gene has been given a Red rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.17 AKNA Ivone Leong Gene: akna has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.16 NME5 Ivone Leong Classified gene: NME5 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.16 NME5 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Therefore, there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.16 NME5 Ivone Leong Gene: nme5 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.15 NME5 Ivone Leong Tag watchlist tag was added to gene: NME5.
Respiratory ciliopathies including non-CF bronchiectasis v1.15 CFAP74 Ivone Leong Tag watchlist tag was added to gene: CFAP74.
Respiratory ciliopathies including non-CF bronchiectasis v1.15 NME5 Ivone Leong Publications for gene: NME5 were set to 32185794
Respiratory ciliopathies including non-CF bronchiectasis v1.14 CFAP74 Ivone Leong Classified gene: CFAP74 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.14 CFAP74 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the available evidence there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.14 CFAP74 Ivone Leong Gene: cfap74 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.13 OFD1 Ivone Leong reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.13 OFD1 Ivone Leong Mode of inheritance for gene: OFD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Respiratory ciliopathies including non-CF bronchiectasis v1.12 OFD1 Ivone Leong Tag for-review tag was added to gene: OFD1.
Respiratory ciliopathies including non-CF bronchiectasis v1.12 OFD1 Ivone Leong Publications for gene: OFD1 were set to 31366608; 32276433; 31373179; 16783569
Respiratory ciliopathies including non-CF bronchiectasis v1.11 OFD1 Ivone Leong Publications for gene: OFD1 were set to
Respiratory ciliopathies including non-CF bronchiectasis v1.10 OFD1 Ivone Leong Phenotypes for gene: OFD1 were changed from Ciliopathies; Primary ciliary dyskinesia to Ciliopathies; Primary ciliary dyskinesia; Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209, MONDO:0010265
Respiratory ciliopathies including non-CF bronchiectasis v1.9 OFD1 Ivone Leong Phenotypes for gene: OFD1 were changed from Ciliopathies to Ciliopathies; Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis v1.8 GAS2L2 Arina Puzriakova Classified gene: GAS2L2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.8 GAS2L2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Respiratory ciliopathies including non-CF bronchiectasis v1.8 GAS2L2 Arina Puzriakova Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GAS2L2 Arina Puzriakova Tag for-review tag was added to gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v1.7 AKNA Zornitza Stark gene: AKNA was added
gene: AKNA was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: AKNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKNA were set to 32367404; 21606955
Phenotypes for gene: AKNA were set to Primary ciliary dyskinesia
Review for gene: AKNA was set to RED
Added comment: PMID 32367404 :Two siblings with homozygous PTCs with PCD. Carrier parents and mutation negative siblings (5) were asymptomatic.

PMID: 21606955: Null mice have neonatal death with systemic inflammation and alveolar loss
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.7 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITCH were set to 20170897; 32367404
Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism 613385; primary ciliary dyskinesia
Review for gene: ITCH was set to RED
Added comment: Single individual with biallelic start-loss variant and primary ciliary dyskinesia reported in PMID 32367404.

Note that in the original Amish families, chronic lung disease was present in 9 of the 10 children, often clinically characterised as asthma and consisting of a cellular, nonspecific interstitial pneumonitis; respiratory failure was the cause of death in all 3 children who were deceased, at 6 months, 1.2 years, and 3 years of age, respectively. Unclear if ciliary dyskinesia may have been part of the phenotype.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GOLGA3 Zornitza Stark gene: GOLGA3 was added
gene: GOLGA3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: GOLGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOLGA3 were set to 23495255; 32367404
Phenotypes for gene: GOLGA3 were set to Primary ciliary dyskinesia
Review for gene: GOLGA3 was set to RED
Added comment: PMID 32367404: Two siblings with a homozygous missense and PCD. PMID: 23495255; null mice have failed spermatogenesis
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.7 OFD1 Zornitza Stark Deleted their comment
Respiratory ciliopathies including non-CF bronchiectasis v1.7 OFD1 Zornitza Stark edited their review of gene: OFD1: Added comment: The conditions associated with this gene are not primary ciliary dyskinesias. However, note 7 individuals reported with PCD phenotype.; Changed rating: GREEN; Changed publications: 32276433, 31373179; Changed phenotypes: Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP74 Zornitza Stark gene: CFAP74 was added
gene: CFAP74 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP74 were set to 32555313
Phenotypes for gene: CFAP74 were set to Primary ciliary dyskinesia; infertility
Review for gene: CFAP74 was set to AMBER
Added comment: Two unrelated individuals with compound het missense variants reported.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.7 OFD1 Simon Thomas changed review comment from: Publication from 2019: Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. PMID: 31366608 DOI: 10.1136/jmedgenet-2018-105918 .
A novel hemizygous truncating mutaion in exon 20 was found by GOSH in a Wessex patient negative for our in-house PCD panel.
Sequencing of these exons could be included in the PCD panel or at least reviewed as part of amber gene data collection.; to: Publication from 2019: Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. PMID: 31366608 DOI: 10.1136/jmedgenet-2018-105918 .
A novel hemizygous truncating mutation in OFD1 exon 20 was found by GOSH in a Wessex patient negative for our in-house PCD panel.
Sequencing of these exons could be included in the PCD panel or at least reviewed as part of amber gene data collection.
Respiratory ciliopathies including non-CF bronchiectasis v1.7 OFD1 Simon Thomas changed review comment from: Publication from 2019: Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. PMID: 31366608 DOI: 10.1136/jmedgenet-2018-105918 .
A novel hemizygous truncating mutaion in exon 20 was found by GOSH in a Wessex patient negative for our in-house PCD panel.
Sequencing of these exons could be included in the PCD panels or at least reviewed as part of amber gene data collection.; to: Publication from 2019: Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. PMID: 31366608 DOI: 10.1136/jmedgenet-2018-105918 .
A novel hemizygous truncating mutaion in exon 20 was found by GOSH in a Wessex patient negative for our in-house PCD panel.
Sequencing of these exons could be included in the PCD panel or at least reviewed as part of amber gene data collection.
Respiratory ciliopathies including non-CF bronchiectasis v1.7 OFD1 Simon Thomas commented on gene: OFD1
Respiratory ciliopathies including non-CF bronchiectasis v1.7 NME5 Zornitza Stark gene: NME5 was added
gene: NME5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: NME5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME5 were set to 32185794
Phenotypes for gene: NME5 were set to Primary ciliary dyskinesia
Review for gene: NME5 was set to AMBER
Added comment: One patient reported with PCD with situs solitus, with radial spokes (RS) and central pair (CP) defects. Patient had a homozygous nonsense variant in NME5, with parents as carriers. Morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.7 SPEF2 Zornitza Stark gene: SPEF2 was added
gene: SPEF2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert list
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to AMBER
Added comment: 4 families reported with bi-allelic variants and sperm morphological abnormalities plus recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype. Morphological abnormalities of the respiratory cilia were not observed. Mouse model recapitulated the infertility phenotype but also had hydrocephalus and sinusitis, again arguing for broader impact on ciliary function. Note other reports of individuals with bi-allelic variants and no respiratory phenotype reported. Given respiratory phenotype is milder and currently it is unclear in what proportion of individuals it is present, suggest Amber rating on this panel for now.
Sources: Expert list
Respiratory ciliopathies including non-CF bronchiectasis v1.7 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert list
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia
Review for gene: TTC12 was set to GREEN
gene: TTC12 was marked as current diagnostic
Added comment: Four unrelated families with LoF variants reported with a respiratory phenotype.
Sources: Expert list
Respiratory ciliopathies including non-CF bronchiectasis v1.7 RPGR Zornitza Stark reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094550, 12920075, 16055928; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v1.7 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.7 DNAJB13 Zornitza Stark reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486783; Phenotypes: Ciliary dyskinesia, primary, 34, MIM# 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.7 FOXJ1 Zornitza Stark reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787; Phenotypes: Hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v1.7 NEK10 Zornitza Stark edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781; Set current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v1.7 NEK10 Zornitza Stark gene: NEK10 was added
gene: NEK10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert list
Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK10 were set to 31959991
Phenotypes for gene: NEK10 were set to Ciliary dyskinesia, primary, 44, MIM# 618781
Review for gene: NEK10 was set to GREEN
Added comment: Nine individuals from 5 unrelated families, some functional data demonstrating hypoplastic or shorter cilia, and reduced overall ciliary motion compared to controls. No individuals had situs inversus but most had recurrent sinusitis and bronchiectasis.
Sources: Expert list
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP57 Zornitza Stark gene: CFAP57 was added
gene: CFAP57 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Other
Mode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP57 were set to bioRxiv 773028 doi: https://doi.org/10.1101/773028
Phenotypes for gene: CFAP57 were set to Primary ciliary dyskinesia
Review for gene: CFAP57 was set to RED
Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.
Sources: Other
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP54 Zornitza Stark edited their review of gene: CFAP54: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP54 Zornitza Stark reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: 26224312; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP46 Zornitza Stark reviewed gene: CFAP46: Rating: RED; Mode of pathogenicity: None; Publications: 29843777; Phenotypes: Heterotaxy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GAS2L2 Eleanor Williams Classified gene: GAS2L2 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GAS2L2 Eleanor Williams Added comment: Comment on list classification: Upgrading from amber to green, based on Expert review on the Primary ciliary disorders panel (https://panelapp.genomicsengland.co.uk/panels/178/gene/GAS2L2/). 2 cases plus animal model.
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GAS2L2 Eleanor Williams Gene: gas2l2 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.4 Catherine Snow Panel version has been signed off
Respiratory ciliopathies including non-CF bronchiectasis v1.3 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Respiratory ciliopathies including non-CF bronchiectasis v1.2 FOXJ1 Louise Daugherty Publications for gene: FOXJ1 were set to PMID: 31630787
Respiratory ciliopathies including non-CF bronchiectasis v1.1 FOXJ1 Louise Daugherty Classified gene: FOXJ1 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.1 FOXJ1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer after panel sign off to V1.0- to be reviewed at next panel update with the respiratory Test Group for GMS
Respiratory ciliopathies including non-CF bronchiectasis v1.1 FOXJ1 Louise Daugherty Gene: foxj1 has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.0 FOXJ1 Hannah Mitchison gene: FOXJ1 was added
gene: FOXJ1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to PMID: 31630787
Phenotypes for gene: FOXJ1 were set to Motile ciliopathy; situs inversus, hydrocephalus
Penetrance for gene: FOXJ1 were set to Complete
Mode of pathogenicity for gene: FOXJ1 was set to Other
Review for gene: FOXJ1 was set to AMBER
Added comment: Wallmeier et al 2019 report the first known cause of autosomal dominant 'PCD' - referred to here more as a motile ciliopathy, than strictly PCD, because there are reduced cilia numbers but no structural changes in the cilia axonemes which are typical for diagnosing PCD. The reported mutations are associated in this sole paper with haploinsufficiency. Wallmeier et al report FOXJ1 mutations in 6 unrelated patients - all were heterozygous, single de novo variants.
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v1.0 Louise Daugherty promoted panel to version 1.0
Respiratory ciliopathies including non-CF bronchiectasis v0.157 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Respiratory ciliopathies including non-CF bronchiectasis v0.156 RAG2 Louise Daugherty Phenotypes for gene: RAG2 were changed from Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) to Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A); early onset and progressive lung disease
Respiratory ciliopathies including non-CF bronchiectasis v0.155 RAG1 Louise Daugherty Phenotypes for gene: RAG1 were changed from Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) to Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A); early onset and progressive lung disease
Respiratory ciliopathies including non-CF bronchiectasis v0.154 TTC25 Louise Daugherty Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary 35, 617092
Respiratory ciliopathies including non-CF bronchiectasis v0.153 TTC25 Louise Daugherty Publications for gene: TTC25 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.152 TTC25 Louise Daugherty Mode of inheritance for gene: TTC25 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.151 Louise Daugherty List of related panels changed from to R189
Respiratory ciliopathies including non-CF bronchiectasis v0.150 TTC25 Matthew Edwards reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: None; Publications: 27486780; Phenotypes: Ciliary dyskinesia, primary, 35; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v0.150 C11orf70 Louise Daugherty Publications for gene: C11orf70 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.148 C11orf70 Louise Daugherty Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, 618063
Respiratory ciliopathies including non-CF bronchiectasis v0.147 C11orf70 Louise Daugherty Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.146 DNAJB13 Louise Daugherty Mode of inheritance for gene: DNAJB13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.145 DNAJB13 Louise Daugherty Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, 617091
Respiratory ciliopathies including non-CF bronchiectasis v0.144 GAS2L2 Louise Daugherty Classified gene: GAS2L2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.144 GAS2L2 Louise Daugherty Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.143 GAS2L2 Louise Daugherty gene: GAS2L2 was added
gene: GAS2L2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
watchlist tags were added to gene: GAS2L2.
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to 30665704
Phenotypes for gene: GAS2L2 were set to Primary ciliary dyskinesia
Review for gene: GAS2L2 was set to AMBER
Added comment: Review added to Primary ciliary disorders panel, gene recommend by Hannah Mitchison. PMID: 30665704 reports two unrelated individuals with clinical features of primary ciliary dyskinesia, one of whom had a homozygous frameshift variant in GAS2L2; the other was a compound heterozygote for the same variant and an intragenic deletion in GAS2L2. Cultured cells from one of the patients showed evidence of ciliary dysfunction and there was functional evidence of ciliary dysfunction in Xenopus and mouse knockouts. Sources: Expert Review
Anna de Burca (Genomics England Curator), 24 Jan 2019
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.142 C21orf59 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf59.
Respiratory ciliopathies including non-CF bronchiectasis v0.142 C21orf59 Louise Daugherty commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298
Respiratory ciliopathies including non-CF bronchiectasis v0.142 C11orf70 Louise Daugherty Tag new-gene-name tag was added to gene: C11orf70.
Respiratory ciliopathies including non-CF bronchiectasis v0.142 C11orf70 Louise Daugherty commented on gene: C11orf70: New HGNC approved gene symbol for C11orf70 is CFAP300
Respiratory ciliopathies including non-CF bronchiectasis v0.142 RAG2 Louise Daugherty Added comment: Comment on publications: added further publications to support gene-disease association and rating of this gene to Green
Respiratory ciliopathies including non-CF bronchiectasis v0.142 RAG2 Louise Daugherty Publications for gene: RAG2 were set to 24996264
Respiratory ciliopathies including non-CF bronchiectasis v0.141 RAG1 Louise Daugherty Added comment: Comment on publications: added further publications to support gene-disease association and rating of this gene to Green
Respiratory ciliopathies including non-CF bronchiectasis v0.141 RAG1 Louise Daugherty Publications for gene: RAG1 were set to 24996264
Respiratory ciliopathies including non-CF bronchiectasis v0.140 RAG2 Louise Daugherty Phenotypes for gene: RAG2 were changed from to Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A)
Respiratory ciliopathies including non-CF bronchiectasis v0.139 RAG1 Louise Daugherty Phenotypes for gene: RAG1 were changed from to Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A)
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RAG1 Louise Daugherty commented on gene: RAG1: Update from From GMS Respiratory Specialist Test Group member Ian Berry. Suggested phenotype from Sinisa Savic : Combined immunodeficiency (CID), and combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) are both associated with early onset and progressive lung disease.
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RAG2 Louise Daugherty commented on gene: RAG2: Update from From GMS Respiratory Specialist Test Group member Ian Berry. Suggested phenotype from Sinisa Savic : Combined immunodeficiency (CID), and combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) are both associated with early onset and progressive lung disease.
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RAG2 Louise Daugherty commented on gene: RAG2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green. Ian Berry to check with Sinisa Savic and Daniel Peckham re. phenotype
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RAG1 Louise Daugherty commented on gene: RAG1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green. Ian Berry to check with Sinisa Savic and Daniel Peckham re. phenotype
Respiratory ciliopathies including non-CF bronchiectasis v0.138 PIK3R1 Louise Daugherty commented on gene: PIK3R1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green. Ian Berry to check with Sinisa Savic and Daniel Peckham re. phenotype
Respiratory ciliopathies including non-CF bronchiectasis v0.138 NFKB2 Louise Daugherty commented on gene: NFKB2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there enough evidence to rate this gene Green
Respiratory ciliopathies including non-CF bronchiectasis v0.138 NFKB1 Louise Daugherty commented on gene: NFKB1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there enough evidence to rate this gene Green
Respiratory ciliopathies including non-CF bronchiectasis v0.138 PIK3CD Louise Daugherty commented on gene: PIK3CD: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there enough evidence to rate this gene Green
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RPGR Louise Daugherty commented on gene: RPGR: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019; Agreed to keep Amber, not enough evidence to upgrade to Green
Respiratory ciliopathies including non-CF bronchiectasis v0.138 STK36 Louise Daugherty Mode of inheritance for gene: STK36 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.137 STK36 Louise Daugherty edited their review of gene: STK36: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber. Only 1 case PMID:28543983; Changed rating: AMBER
Respiratory ciliopathies including non-CF bronchiectasis v0.137 CENPF Louise Daugherty edited their review of gene: CENPF: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it as decided to downgrade this gene from Green to Red, there is no further evidence since 2015 publication; Changed rating: RED
Respiratory ciliopathies including non-CF bronchiectasis v0.137 DNAH8 Louise Daugherty edited their review of gene: DNAH8: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber not enough published cases or other evidence to remain Green; Changed rating: AMBER
Respiratory ciliopathies including non-CF bronchiectasis v0.137 DNAH9 Louise Daugherty edited their review of gene: DNAH9: Changed rating: GREEN
Respiratory ciliopathies including non-CF bronchiectasis v0.137 DNAH9 Louise Daugherty Mode of inheritance for gene: DNAH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.136 DNAH9 Louise Daugherty Added comment: Comment on publications: Added publication to support gene-disease association and rating of this gene to Green.
Respiratory ciliopathies including non-CF bronchiectasis v0.136 DNAH9 Louise Daugherty Publications for gene: DNAH9 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.135 DNAH9 Anna de Burca Phenotypes for gene: DNAH9 were changed from Primary c to Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis v0.134 DNAH9 Anna de Burca Phenotypes for gene: DNAH9 were changed from to Primary c
Respiratory ciliopathies including non-CF bronchiectasis v0.133 DNAH9 Anna de Burca Classified gene: DNAH9 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.133 DNAH9 Anna de Burca Added comment: Comment on list classification: Recent publication Fassad et al Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
https://www.sciencedirect.com/science/article/pii/S0002929718303689
reports two unrelated probands and a sibling pair with biallelic variants in DNAH9, as well as functional evidence that DNAH9 mutaitons affect ciliary function.
Respiratory ciliopathies including non-CF bronchiectasis v0.133 DNAH9 Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.132 NME8 Anna de Burca Classified gene: NME8 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.132 NME8 Anna de Burca Gene: nme8 has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.131 NME8 Anna de Burca reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.131 STK36 Anna de Burca Classified gene: STK36 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.131 STK36 Anna de Burca Gene: stk36 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.130 STK36 Anna de Burca reviewed gene: STK36: Rating: RED; Mode of pathogenicity: None; Publications: PMID:28543983; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.130 CENPF Anna de Burca Classified gene: CENPF as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.130 CENPF Anna de Burca Added comment: Comment on list classification: No further evidence since review by Ian Berry in 2015.
Respiratory ciliopathies including non-CF bronchiectasis v0.130 CENPF Anna de Burca Gene: cenpf has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.129 DNAH8 Anna de Burca Tag watchlist tag was added to gene: DNAH8.
Respiratory ciliopathies including non-CF bronchiectasis v0.129 DNAH8 Anna de Burca Classified gene: DNAH8 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.129 DNAH8 Anna de Burca Added comment: Comment on list classification: One published case and additional unpublished cases. To remain amber at present pending further evidence.
Respiratory ciliopathies including non-CF bronchiectasis v0.129 DNAH8 Anna de Burca Gene: dnah8 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.128 DNAH8 Anna de Burca reviewed gene: DNAH8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.128 Louise Daugherty removed gene:RPGRIP1L from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.127 Louise Daugherty removed gene:RPGRIP1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.126 Louise Daugherty removed gene:RPE65 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.125 Louise Daugherty removed gene:RDH12 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.124 Louise Daugherty removed gene:RD3 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.123 Louise Daugherty removed gene:PKHD1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.122 Louise Daugherty removed gene:PKD2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.121 Louise Daugherty removed gene:PCDH15 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.120 Louise Daugherty removed gene:SDCCAG8 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.119 Louise Daugherty removed gene:ZNF423 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.118 Louise Daugherty removed gene:ZIC3 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.117 Louise Daugherty removed gene:XPNPEP3 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.116 Louise Daugherty removed gene:WHRN from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.115 Louise Daugherty removed gene:WDR35 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.114 Louise Daugherty removed gene:WDR19 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.113 Louise Daugherty removed gene:WDPCP from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.112 Louise Daugherty removed gene:VHL from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.111 Louise Daugherty removed gene:USH2A from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.110 Louise Daugherty removed gene:USH1G from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.109 Louise Daugherty removed gene:USH1C from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.108 Louise Daugherty removed gene:UMOD from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.107 Louise Daugherty removed gene:TULP1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.106 Louise Daugherty removed gene:TTC8 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.105 Louise Daugherty removed gene:TTC21B from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.104 Louise Daugherty removed gene:TSC2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.103 Louise Daugherty removed gene:TSC1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.102 Louise Daugherty removed gene:TRIM32 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.101 Louise Daugherty removed gene:TOPORS from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.100 Louise Daugherty removed gene:TMEM67 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.99 Louise Daugherty removed gene:TMEM237 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.98 Louise Daugherty removed gene:TMEM231 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.97 Louise Daugherty removed gene:TMEM216 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.96 Louise Daugherty removed gene:TMEM138 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.95 Louise Daugherty removed gene:TCTN2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.94 Louise Daugherty removed gene:TCTN1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.93 Louise Daugherty removed gene:SPATA7 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.92 Louise Daugherty removed gene:NPHP4 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.91 Louise Daugherty removed gene:NPHP3 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.90 Louise Daugherty removed gene:NPHP1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.89 Louise Daugherty removed gene:NODAL from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.88 Louise Daugherty removed gene:NEK8 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.87 Louise Daugherty removed gene:NKX2-5 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.86 Louise Daugherty removed gene:NEK1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.85 Louise Daugherty removed gene:MYO7A from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.84 Louise Daugherty removed gene:MKS1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.83 Louise Daugherty removed gene:MKKS from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.82 Louise Daugherty removed gene:LZTFL1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.81 Louise Daugherty removed gene:LRAT from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.80 Louise Daugherty removed gene:LEFTY2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.79 Louise Daugherty removed gene:LCA5 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.78 Louise Daugherty removed gene:KIF7 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.77 Louise Daugherty removed gene:KCNJ13 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.76 Louise Daugherty removed gene:IQCB1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.75 Louise Daugherty removed gene:INVS from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.74 Louise Daugherty removed gene:IMPDH1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.73 Louise Daugherty removed gene:IFT80 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.72 Louise Daugherty removed gene:HYLS1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.71 Louise Daugherty removed gene:IFT43 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.70 Louise Daugherty removed gene:GUCY2D from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.69 Louise Daugherty removed gene:GLIS2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.68 Louise Daugherty removed gene:GDF1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.67 Louise Daugherty removed gene:FOXH1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.66 Louise Daugherty removed gene:EVC2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.65 Louise Daugherty removed gene:EVC from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.64 Louise Daugherty removed gene:DYNC2H1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.63 Louise Daugherty removed gene:CRX from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.62 Louise Daugherty removed gene:CRELD1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.61 Louise Daugherty removed gene:CRB1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.60 Louise Daugherty removed gene:CLRN1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.59 Louise Daugherty removed gene:CEP55 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.58 Louise Daugherty removed gene:CEP41 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.57 Louise Daugherty removed gene:CEP290 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.56 Louise Daugherty removed gene:CEP164 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.55 Louise Daugherty removed gene:CDH23 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.54 Louise Daugherty removed gene:CCDC28B from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.53 Louise Daugherty removed gene:CC2D2A from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.52 Louise Daugherty removed gene:C5orf42 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.51 Louise Daugherty removed gene:C2orf71 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.50 Louise Daugherty removed gene:BBS9 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.49 Louise Daugherty removed gene:BBS7 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.48 Louise Daugherty removed gene:BBS4 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.47 Louise Daugherty removed gene:BBS5 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.46 Louise Daugherty removed gene:BBS12 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.45 Louise Daugherty removed gene:BBS2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.44 Louise Daugherty removed gene:BBS1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.43 Louise Daugherty removed gene:BBS10 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.42 Louise Daugherty removed gene:B9D2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.41 Louise Daugherty removed gene:ARL6 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.40 Louise Daugherty removed gene:B9D1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.39 Louise Daugherty removed gene:AIPL1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.38 Louise Daugherty removed gene:ARL13B from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.37 Louise Daugherty removed gene:ADGRV1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.36 Louise Daugherty removed gene:AHI1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.35 Louise Daugherty removed gene:ACVR2B from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ZNF423 Louise Daugherty gene: ZNF423 was added
gene: ZNF423 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ZNF423 was set to
Phenotypes for gene: ZNF423 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ZMYND10 Louise Daugherty Mode of inheritance for gene ZMYND10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 22, 615444 for gene: ZMYND10
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ZIC3 Louise Daugherty gene: ZIC3 was added
gene: ZIC3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ZIC3 was set to
Phenotypes for gene: ZIC3 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 XPNPEP3 Louise Daugherty gene: XPNPEP3 was added
gene: XPNPEP3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: XPNPEP3 was set to
Phenotypes for gene: XPNPEP3 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 WHRN Louise Daugherty gene: WHRN was added
gene: WHRN was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: WHRN was set to
Phenotypes for gene: WHRN were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 WDR35 Louise Daugherty gene: WDR35 was added
gene: WDR35 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: WDR35 was set to
Phenotypes for gene: WDR35 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 WDR19 Louise Daugherty gene: WDR19 was added
gene: WDR19 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: WDR19 was set to
Phenotypes for gene: WDR19 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 WDPCP Louise Daugherty gene: WDPCP was added
gene: WDPCP was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: WDPCP was set to
Phenotypes for gene: WDPCP were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 VHL Louise Daugherty gene: VHL was added
gene: VHL was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: VHL was set to
Phenotypes for gene: VHL were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 USH2A Louise Daugherty gene: USH2A was added
gene: USH2A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: USH2A was set to
Phenotypes for gene: USH2A were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 USH1G Louise Daugherty gene: USH1G was added
gene: USH1G was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: USH1G was set to
Phenotypes for gene: USH1G were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 USH1C Louise Daugherty gene: USH1C was added
gene: USH1C was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: USH1C was set to
Phenotypes for gene: USH1C were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 UMOD Louise Daugherty gene: UMOD was added
gene: UMOD was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: UMOD was set to
Phenotypes for gene: UMOD were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TULP1 Louise Daugherty gene: TULP1 was added
gene: TULP1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TULP1 was set to
Phenotypes for gene: TULP1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TTC8 Louise Daugherty gene: TTC8 was added
gene: TTC8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TTC8 was set to
Phenotypes for gene: TTC8 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TTC21B Louise Daugherty gene: TTC21B was added
gene: TTC21B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TTC21B was set to
Phenotypes for gene: TTC21B were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TSC2 Louise Daugherty gene: TSC2 was added
gene: TSC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TSC2 was set to
Phenotypes for gene: TSC2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TSC1 Louise Daugherty gene: TSC1 was added
gene: TSC1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TSC1 was set to
Phenotypes for gene: TSC1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TRIM32 Louise Daugherty gene: TRIM32 was added
gene: TRIM32 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TRIM32 was set to
Phenotypes for gene: TRIM32 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TOPORS Louise Daugherty gene: TOPORS was added
gene: TOPORS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TOPORS was set to
Phenotypes for gene: TOPORS were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM67 Louise Daugherty gene: TMEM67 was added
gene: TMEM67 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM67 was set to
Phenotypes for gene: TMEM67 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM237 Louise Daugherty gene: TMEM237 was added
gene: TMEM237 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM237 was set to
Phenotypes for gene: TMEM237 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM231 Louise Daugherty gene: TMEM231 was added
gene: TMEM231 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM231 was set to
Phenotypes for gene: TMEM231 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM216 Louise Daugherty gene: TMEM216 was added
gene: TMEM216 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM216 was set to
Phenotypes for gene: TMEM216 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM138 Louise Daugherty gene: TMEM138 was added
gene: TMEM138 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM138 was set to
Phenotypes for gene: TMEM138 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TCTN2 Louise Daugherty gene: TCTN2 was added
gene: TCTN2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TCTN2 was set to
Phenotypes for gene: TCTN2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TCTN1 Louise Daugherty gene: TCTN1 was added
gene: TCTN1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TCTN1 was set to
Phenotypes for gene: TCTN1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SPATA7 Louise Daugherty gene: SPATA7 was added
gene: SPATA7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: SPATA7 was set to
Phenotypes for gene: SPATA7 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SPAG1 Louise Daugherty Mode of inheritance for gene SPAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SDCCAG8 Louise Daugherty gene: SDCCAG8 was added
gene: SDCCAG8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: SDCCAG8 was set to
Phenotypes for gene: SDCCAG8 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SCNN1G Louise Daugherty Mode of inheritance for gene SCNN1G was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Bronchiectasis with or without elevated sweat chloride 3, 613071; Ciliopathies; Bronchiectasis; Liddle syndrome, 177200; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1G
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SCNN1B Louise Daugherty Mode of inheritance for gene SCNN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added 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 for gene: SCNN1B
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SCNN1A Louise Daugherty Mode of inheritance for gene SCNN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ciliopathies; Bronchiectasis with or without elevated sweat chloride 2, 613021; Bronchiectasis; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1A
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RSPH9 Louise Daugherty Mode of inheritance for gene RSPH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RSPH4A Louise Daugherty Mode of inheritance for gene RSPH4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added 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 for gene: RSPH4A
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RSPH3 Louise Daugherty Mode of inheritance for gene RSPH3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RSPH1 Louise Daugherty Mode of inheritance for gene RSPH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RPGRIP1L Louise Daugherty gene: RPGRIP1L was added
gene: RPGRIP1L was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RPGRIP1L was set to
Phenotypes for gene: RPGRIP1L were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RPGRIP1 Louise Daugherty gene: RPGRIP1 was added
gene: RPGRIP1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RPGRIP1 was set to
Phenotypes for gene: RPGRIP1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RPGR Louise Daugherty Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Ciliopathies for gene: RPGR
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RPE65 Louise Daugherty gene: RPE65 was added
gene: RPE65 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RPE65 was set to
Phenotypes for gene: RPE65 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RDH12 Louise Daugherty gene: RDH12 was added
gene: RDH12 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RDH12 was set to
Phenotypes for gene: RDH12 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RD3 Louise Daugherty gene: RD3 was added
gene: RD3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RD3 was set to
Phenotypes for gene: RD3 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 PKHD1 Louise Daugherty gene: PKHD1 was added
gene: PKHD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: PKHD1 was set to
Phenotypes for gene: PKHD1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 PKD2 Louise Daugherty gene: PKD2 was added
gene: PKD2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: PKD2 was set to
Phenotypes for gene: PKD2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 PIH1D3 Louise Daugherty Mode of inheritance for gene PIH1D3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes X-linked primary ciliary dyskinesia; X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects for gene: PIH1D3
Respiratory ciliopathies including non-CF bronchiectasis v0.34 PCDH15 Louise Daugherty gene: PCDH15 was added
gene: PCDH15 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: PCDH15 was set to
Phenotypes for gene: PCDH15 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 OFD1 Louise Daugherty Added phenotypes Ciliopathies for gene: OFD1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NPHP4 Louise Daugherty gene: NPHP4 was added
gene: NPHP4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NPHP4 was set to
Phenotypes for gene: NPHP4 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NPHP3 Louise Daugherty gene: NPHP3 was added
gene: NPHP3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NPHP3 was set to
Phenotypes for gene: NPHP3 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NPHP1 Louise Daugherty gene: NPHP1 was added
gene: NPHP1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NPHP1 was set to
Phenotypes for gene: NPHP1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NODAL Louise Daugherty gene: NODAL was added
gene: NODAL was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NODAL was set to
Phenotypes for gene: NODAL were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NME8 Louise Daugherty Mode of inheritance for gene NME8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 6, 610852; Bronchiectasis for gene: NME8
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NKX2-5 Louise Daugherty gene: NKX2-5 was added
gene: NKX2-5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NKX2-5 was set to
Phenotypes for gene: NKX2-5 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NEK8 Louise Daugherty gene: NEK8 was added
gene: NEK8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NEK8 was set to
Phenotypes for gene: NEK8 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NEK1 Louise Daugherty gene: NEK1 was added
gene: NEK1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NEK1 was set to
Phenotypes for gene: NEK1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 MYO7A Louise Daugherty gene: MYO7A was added
gene: MYO7A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: MYO7A was set to
Phenotypes for gene: MYO7A were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 MKS1 Louise Daugherty gene: MKS1 was added
gene: MKS1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: MKS1 was set to
Phenotypes for gene: MKS1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 MKKS Louise Daugherty gene: MKKS was added
gene: MKKS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: MKKS was set to
Phenotypes for gene: MKKS were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 MCIDAS Louise Daugherty Mode of inheritance for gene MCIDAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LZTFL1 Louise Daugherty gene: LZTFL1 was added
gene: LZTFL1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Visceral Heterotaxy; Bardet-Biedl Syndrome 17
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LRRC6 Louise Daugherty Mode of inheritance for gene LRRC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 19, 614935; Primary Ciliary Dyskinesia for gene: LRRC6
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LRRC56 Louise Daugherty Mode of inheritance for gene LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliopathies for gene: LRRC56
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LRAT Louise Daugherty gene: LRAT was added
gene: LRAT was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: LRAT was set to
Phenotypes for gene: LRAT were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LEFTY2 Louise Daugherty gene: LEFTY2 was added
gene: LEFTY2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: LEFTY2 was set to
Phenotypes for gene: LEFTY2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LCA5 Louise Daugherty gene: LCA5 was added
gene: LCA5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: LCA5 was set to
Phenotypes for gene: LCA5 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 KIF7 Louise Daugherty gene: KIF7 was added
gene: KIF7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: KIF7 was set to
Phenotypes for gene: KIF7 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 KCNJ13 Louise Daugherty gene: KCNJ13 was added
gene: KCNJ13 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: KCNJ13 was set to
Phenotypes for gene: KCNJ13 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 IQCB1 Louise Daugherty gene: IQCB1 was added
gene: IQCB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: IQCB1 was set to
Phenotypes for gene: IQCB1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 INVS Louise Daugherty gene: INVS was added
gene: INVS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: INVS was set to
Phenotypes for gene: INVS were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 IMPDH1 Louise Daugherty gene: IMPDH1 was added
gene: IMPDH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: IMPDH1 was set to
Phenotypes for gene: IMPDH1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 IFT80 Louise Daugherty gene: IFT80 was added
gene: IFT80 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: IFT80 was set to
Phenotypes for gene: IFT80 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 IFT43 Louise Daugherty gene: IFT43 was added
gene: IFT43 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: IFT43 was set to
Phenotypes for gene: IFT43 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 HYLS1 Louise Daugherty gene: HYLS1 was added
gene: HYLS1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: HYLS1 was set to
Phenotypes for gene: HYLS1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 HYDIN Louise Daugherty Mode of inheritance for gene HYDIN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Respiratory ciliopathies including non-CF bronchiectasis v0.34 GUCY2D Louise Daugherty gene: GUCY2D was added
gene: GUCY2D was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: GUCY2D was set to
Phenotypes for gene: GUCY2D were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 GLIS2 Louise Daugherty gene: GLIS2 was added
gene: GLIS2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: GLIS2 was set to
Phenotypes for gene: GLIS2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 GDF1 Louise Daugherty gene: GDF1 was added
gene: GDF1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: GDF1 was set to
Phenotypes for gene: GDF1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 GAS8 Louise Daugherty Mode of inheritance for gene GAS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.34 FOXH1 Louise Daugherty gene: FOXH1 was added
gene: FOXH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: FOXH1 was set to
Phenotypes for gene: FOXH1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 EVC2 Louise Daugherty gene: EVC2 was added
gene: EVC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: EVC2 was set to
Phenotypes for gene: EVC2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 EVC Louise Daugherty gene: EVC was added
gene: EVC was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: EVC was set to
Phenotypes for gene: EVC were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DYNC2H1 Louise Daugherty gene: DYNC2H1 was added
gene: DYNC2H1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: DYNC2H1 was set to
Phenotypes for gene: DYNC2H1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DRC1 Louise Daugherty Mode of inheritance for gene DRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 21, 615294 for gene: DRC1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAL1 Louise Daugherty Mode of inheritance for gene DNAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 16, 614017; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAL1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAI2 Louise Daugherty Mode of inheritance for gene DNAI2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 for gene: DNAI2
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAI1 Louise Daugherty Mode of inheritance for gene DNAI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAI1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAH8 Louise Daugherty Mode of inheritance for gene DNAH8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliopathies for gene: DNAH8
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAH5 Louise Daugherty Mode of inheritance for gene DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Primary Ciliary Dyskinesia; Bronchiectasis; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAH11 Louise Daugherty Mode of inheritance for gene DNAH11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAH11
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAH1 Louise Daugherty Mode of inheritance for gene DNAH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Too new - not yet linked to the PCD mutations publication for gene: DNAH1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF5 Louise Daugherty Mode of inheritance for gene DNAAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 18, 614874 for gene: DNAAF5
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF4 Louise Daugherty Mode of inheritance for gene DNAAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700 for gene: DNAAF4
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF3 Louise Daugherty Mode of inheritance for gene DNAAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF2 Louise Daugherty Mode of inheritance for gene DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Primary Ciliary Dyskinesia; Bronchiectasis; Ciliary dyskinesia, primary, 10, 612518 for gene: DNAAF2
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF1 Louise Daugherty Mode of inheritance for gene DNAAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 13, 613193; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAAF1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CRX Louise Daugherty gene: CRX was added
gene: CRX was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CRX was set to
Phenotypes for gene: CRX were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CRELD1 Louise Daugherty gene: CRELD1 was added
gene: CRELD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CRELD1 was set to
Phenotypes for gene: CRELD1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CRB1 Louise Daugherty gene: CRB1 was added
gene: CRB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CRB1 was set to
Phenotypes for gene: CRB1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CLRN1 Louise Daugherty gene: CLRN1 was added
gene: CLRN1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CLRN1 was set to
Phenotypes for gene: CLRN1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CFTR Louise Daugherty Mode of inheritance for gene CFTR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cystic Fibrosis; Ciliopathies; Congenital bilateral absence of vas deferens, 277180; Sweat chloride elevation without CF; Cystic fibrosis, 219700; {Hypertrypsinemia, neonatal}; {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400; Bronchiectasis; {Pancreatitis, idiopathic}, 167800 for gene: CFTR
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CEP55 Louise Daugherty gene: CEP55 was added
gene: CEP55 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP55 were set to Meckel-like syndrome
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CEP41 Louise Daugherty gene: CEP41 was added
gene: CEP41 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CEP41 was set to
Phenotypes for gene: CEP41 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CEP290 Louise Daugherty gene: CEP290 was added
gene: CEP290 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CEP290 was set to
Phenotypes for gene: CEP290 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CEP164 Louise Daugherty gene: CEP164 was added
gene: CEP164 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CEP164 was set to
Phenotypes for gene: CEP164 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CENPF Louise Daugherty Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 31, 616369 for gene: CENPF
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CDH23 Louise Daugherty gene: CDH23 was added
gene: CDH23 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CDH23 was set to
Phenotypes for gene: CDH23 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCNO Louise Daugherty Mode of inheritance for gene CCNO was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 29 for gene: CCNO
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC65 Louise Daugherty Mode of inheritance for gene CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC40 Louise Daugherty Mode of inheritance for gene CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 15, 613808; Primary Ciliary Dyskinesia; Bronchiectasis for gene: CCDC40
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC39 Louise Daugherty Mode of inheritance for gene CCDC39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 14, 613807; Primary Ciliary Dyskinesia; Bronchiectasis for gene: CCDC39
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC28B Louise Daugherty gene: CCDC28B was added
gene: CCDC28B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CCDC28B was set to
Phenotypes for gene: CCDC28B were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC151 Louise Daugherty Mode of inheritance for gene CCDC151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 30, 616037 for gene: CCDC151
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC114 Louise Daugherty Mode of inheritance for gene CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC103 Louise Daugherty Mode of inheritance for gene CCDC103 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 17, 614679; Primary Ciliary Dyskinesia for gene: CCDC103
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CC2D2A Louise Daugherty gene: CC2D2A was added
gene: CC2D2A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CC2D2A was set to
Phenotypes for gene: CC2D2A were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 C5orf42 Louise Daugherty gene: C5orf42 was added
gene: C5orf42 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: C5orf42 was set to
Phenotypes for gene: C5orf42 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 C2orf71 Louise Daugherty gene: C2orf71 was added
gene: C2orf71 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: C2orf71 was set to
Phenotypes for gene: C2orf71 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 C21orf59 Louise Daugherty Mode of inheritance for gene C21orf59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 26, 615500 for gene: C21orf59
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS9 Louise Daugherty gene: BBS9 was added
gene: BBS9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS9 was set to
Phenotypes for gene: BBS9 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS7 Louise Daugherty gene: BBS7 was added
gene: BBS7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS7 was set to
Phenotypes for gene: BBS7 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS5 Louise Daugherty gene: BBS5 was added
gene: BBS5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS5 was set to
Phenotypes for gene: BBS5 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS4 Louise Daugherty gene: BBS4 was added
gene: BBS4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS4 was set to
Phenotypes for gene: BBS4 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS2 Louise Daugherty gene: BBS2 was added
gene: BBS2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS2 was set to
Phenotypes for gene: BBS2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS12 Louise Daugherty gene: BBS12 was added
gene: BBS12 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS12 was set to
Phenotypes for gene: BBS12 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS10 Louise Daugherty gene: BBS10 was added
gene: BBS10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS10 was set to
Phenotypes for gene: BBS10 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS1 Louise Daugherty gene: BBS1 was added
gene: BBS1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS1 was set to
Phenotypes for gene: BBS1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 B9D2 Louise Daugherty gene: B9D2 was added
gene: B9D2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: B9D2 was set to
Phenotypes for gene: B9D2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 B9D1 Louise Daugherty gene: B9D1 was added
gene: B9D1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: B9D1 was set to
Phenotypes for gene: B9D1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ARMC4 Louise Daugherty Mode of inheritance for gene ARMC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ARL6 Louise Daugherty gene: ARL6 was added
gene: ARL6 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ARL6 was set to
Phenotypes for gene: ARL6 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ARL13B Louise Daugherty gene: ARL13B was added
gene: ARL13B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ARL13B was set to
Phenotypes for gene: ARL13B were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 AIPL1 Louise Daugherty gene: AIPL1 was added
gene: AIPL1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: AIPL1 was set to
Phenotypes for gene: AIPL1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 AHI1 Louise Daugherty gene: AHI1 was added
gene: AHI1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: AHI1 was set to
Phenotypes for gene: AHI1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 AGPAT2 Louise Daugherty Added phenotypes Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome for gene: AGPAT2
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ADGRV1 Louise Daugherty gene: ADGRV1 was added
gene: ADGRV1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ADGRV1 was set to
Phenotypes for gene: ADGRV1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ACVR2B Louise Daugherty gene: ACVR2B was added
gene: ACVR2B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ACVR2B was set to
Phenotypes for gene: ACVR2B were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.31 RAG2 Louise Daugherty Classified gene: RAG2 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.31 RAG2 Louise Daugherty Gene: rag2 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.30 RAG2 Louise Daugherty Classified gene: RAG2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.30 RAG2 Louise Daugherty Gene: rag2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.29 RAG2 Louise Daugherty Classified gene: RAG2 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.29 RAG2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018. Confirm phenotype, MOI and rating.
Respiratory ciliopathies including non-CF bronchiectasis v0.29 RAG2 Louise Daugherty Gene: rag2 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.28 RAG2 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association
Respiratory ciliopathies including non-CF bronchiectasis v0.28 RAG2 Louise Daugherty Publications for gene: RAG2 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.27 RAG1 Louise Daugherty Classified gene: RAG1 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.27 RAG1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018. Confirm phenotype, MOI and rating.
Respiratory ciliopathies including non-CF bronchiectasis v0.27 RAG1 Louise Daugherty Gene: rag1 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.26 RAG1 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association
Respiratory ciliopathies including non-CF bronchiectasis v0.26 RAG1 Louise Daugherty Publications for gene: RAG1 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.25 PIK3R1 Louise Daugherty Classified gene: PIK3R1 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.25 PIK3R1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018
Respiratory ciliopathies including non-CF bronchiectasis v0.25 PIK3R1 Louise Daugherty Gene: pik3r1 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.24 PIK3R1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM that indicate relevance to inclusion on the Respiratory ciliopathies including non-CF bronchiectasis panel
Respiratory ciliopathies including non-CF bronchiectasis v0.24 PIK3R1 Louise Daugherty Phenotypes for gene: PIK3R1 were changed from to Immunodeficiency 36, 616005; Bronchiectasis
Respiratory ciliopathies including non-CF bronchiectasis v0.23 PIK3R1 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association
Respiratory ciliopathies including non-CF bronchiectasis v0.23 PIK3R1 Louise Daugherty Publications for gene: PIK3R1 were set to 29556229
Respiratory ciliopathies including non-CF bronchiectasis v0.22 PIK3R1 Louise Daugherty Publications for gene: PIK3R1 were set to PMID: 29556229
Respiratory ciliopathies including non-CF bronchiectasis v0.21 NFKB2 Louise Daugherty Phenotypes for gene: NFKB2 were changed from Immunodeficiency, common variable, 10, 615577 to Immunodeficiency, common variable, 10, 615577; Bronchiectasis
Respiratory ciliopathies including non-CF bronchiectasis v0.20 NFKB2 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association.
Respiratory ciliopathies including non-CF bronchiectasis v0.20 NFKB2 Louise Daugherty Publications for gene: NFKB2 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.19 NFKB1 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association.
Respiratory ciliopathies including non-CF bronchiectasis v0.19 NFKB1 Louise Daugherty Publications for gene: NFKB1 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.18 NFKB2 Louise Daugherty Classified gene: NFKB2 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.18 NFKB2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018
Respiratory ciliopathies including non-CF bronchiectasis v0.18 NFKB2 Louise Daugherty Gene: nfkb2 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.17 NFKB2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM
Respiratory ciliopathies including non-CF bronchiectasis v0.17 NFKB2 Louise Daugherty Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10, 615577
Respiratory ciliopathies including non-CF bronchiectasis v0.16 NFKB1 Louise Daugherty Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections to Immunodeficiency, common variable, 12, 616576; Recurrent sinopulmonary infections
Respiratory ciliopathies including non-CF bronchiectasis v0.15 NFKB1 Louise Daugherty Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections to Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections
Respiratory ciliopathies including non-CF bronchiectasis v0.14 NFKB1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM that indicate relevance to inclusion on the Respiratory ciliopathies including non-CF bronchiectasis panel
Respiratory ciliopathies including non-CF bronchiectasis v0.14 NFKB1 Louise Daugherty Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections
Respiratory ciliopathies including non-CF bronchiectasis v0.13 NFKB1 Louise Daugherty Classified gene: NFKB1 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.13 NFKB1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018
Respiratory ciliopathies including non-CF bronchiectasis v0.13 NFKB1 Louise Daugherty Gene: nfkb1 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.12 RAG2 Louise Daugherty Source NHS GMS was added to RAG2.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.12 RAG1 Louise Daugherty Source NHS GMS was added to RAG1.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.12 PIK3R1 Louise Daugherty Source NHS GMS was added to PIK3R1.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.12 NFKB2 Louise Daugherty Source NHS GMS was added to NFKB2.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.12 NFKB1 Louise Daugherty Source NHS GMS was added to NFKB1.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.11 PIK3CD Anna de Burca Added comment: Comment on phenotypes: Phenotype added based on external expert review and evidence from OMIM
Respiratory ciliopathies including non-CF bronchiectasis v0.11 PIK3CD Anna de Burca Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, 615513; Bronchiectasis
Respiratory ciliopathies including non-CF bronchiectasis v0.10 PIK3CD Louise Daugherty Mode of pathogenicity for gene: PIK3CD was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Respiratory ciliopathies including non-CF bronchiectasis v0.9 PIK3CD Louise Daugherty Publications for gene: PIK3CD were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Classified gene: PIK3CD as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Added comment: Comment on list classification: Upgraded to green based on review by Ian Berry.
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Gene: pik3cd has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.7 PIK3CD Louise Daugherty Mode of inheritance for gene: PIK3CD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v0.6 STK36 Louise Daugherty Publications for gene: STK36 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.5 LRRC56 Louise Daugherty Publications for gene: LRRC56 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.4 NFKB2 Ian Berry gene: NFKB2 was added
gene: NFKB2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: NFKB2 was set to GREEN
gene: NFKB2 was marked as current diagnostic
Added comment: NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 NFKB1 Ian Berry gene: NFKB1 was added
gene: NFKB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: NFKB1 was set to GREEN
Added comment: NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 RAG2 Ian Berry gene: RAG2 was added
gene: RAG2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: RAG2 was set to GREEN
gene: RAG2 was marked as current diagnostic
Added comment: Results in varying severity phenotypes of immunodeficiency, including hypomorphic mutations resulting in CVID. Two patients have been seen in our bronchiectasis clinic with "leaky" RAG mutations and mild symptoms including bronchiectasis, with limited additional immunological findings. Bronchiectasis (with immunological phenotype) is a common feature of RAG-CVID, see e.g. PMID 24996264. Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 RAG1 Ian Berry gene: RAG1 was added
gene: RAG1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Penetrance for gene: RAG1 were set to unknown
Review for gene: RAG1 was set to GREEN
gene: RAG1 was marked as current diagnostic
Added comment: Results in varying severity phenotypes of immunodeficiency, including hypomorphic mutations resulting in CVID. Two patients have been seen in our bronchiectasis clinic with "leaky" RAG mutations and mild symptoms including bronchiectasis, with limited additional immunological findings. Bronchiectasis (with immunological phenotype) is a common feature of RAG-CVID, see e.g. PMID 24996264. Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 PIK3CD Ian Berry reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 29556229; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v0.4 PIK3R1 Ian Berry gene: PIK3R1 was added
gene: PIK3R1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PIK3R1 were set to PMID: 29556229
Penetrance for gene: PIK3R1 were set to unknown
Review for gene: PIK3R1 was set to GREEN
gene: PIK3R1 was marked as current diagnostic
Added comment: Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds. Causes a form of primary immunodeficiency which frequently results in bronchiectasis with limited additional immunological findings.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.3 ZMYND10 Louise Daugherty Source Expert Review Green was added to ZMYND10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 TTC25 Louise Daugherty Source Expert Review Green was added to TTC25.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 TAPT1 Louise Daugherty Source Expert Review Amber was added to TAPT1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 STK36 Louise Daugherty Source Expert Review Green was added to STK36.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SPAG17 Louise Daugherty Source Expert Review Red was added to SPAG17.
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SPAG1 Louise Daugherty Source Expert Review Green was added to SPAG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SCNN1G Louise Daugherty Source Expert Review Green was added to SCNN1G.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SCNN1B Louise Daugherty Source Expert Review Green was added to SCNN1B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SCNN1A Louise Daugherty Source Expert Review Green was added to SCNN1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RSPH9 Louise Daugherty Source Expert Review Green was added to RSPH9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RSPH4A Louise Daugherty Source Expert Review Green was added to RSPH4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RSPH3 Louise Daugherty Source Expert Review Green was added to RSPH3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RSPH1 Louise Daugherty Source Expert Review Green was added to RSPH1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RPGR Louise Daugherty Source Expert Review Amber was added to RPGR.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 PIK3CD Louise Daugherty Source Expert Review Amber was added to PIK3CD.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 PIH1D3 Louise Daugherty Source Expert Review Green was added to PIH1D3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 ORMDL3 Louise Daugherty Source Expert Review Red was added to ORMDL3.
Respiratory ciliopathies including non-CF bronchiectasis v0.3 OFD1 Louise Daugherty Source Expert Review Amber was added to OFD1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 NME8 Louise Daugherty Source Expert Review Green was added to NME8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 MCIDAS Louise Daugherty Source Expert Review Green was added to MCIDAS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 LRRC6 Louise Daugherty Source Expert Review Green was added to LRRC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 LRRC56 Louise Daugherty Source Expert Review Green was added to LRRC56.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 HYDIN Louise Daugherty Source Expert Review Green was added to HYDIN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 GAS8 Louise Daugherty Source Expert Review Green was added to GAS8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DRC1 Louise Daugherty Source Expert Review Green was added to DRC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAL1 Louise Daugherty Source Expert Review Green was added to DNAL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAJB13 Louise Daugherty Source Expert Review Green was added to DNAJB13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAI2 Louise Daugherty Source Expert Review Green was added to DNAI2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAI1 Louise Daugherty Source Expert Review Green was added to DNAI1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH9 Louise Daugherty Source Expert Review Amber was added to DNAH9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH8 Louise Daugherty Source Expert Review Green was added to DNAH8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH6 Louise Daugherty Source Expert Review Amber was added to DNAH6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH5 Louise Daugherty Source Expert Review Green was added to DNAH5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH11 Louise Daugherty Source Expert Review Green was added to DNAH11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH1 Louise Daugherty Source Expert Review Amber was added to DNAH1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF5 Louise Daugherty Source Expert Review Green was added to DNAAF5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF4 Louise Daugherty Source Expert Review Green was added to DNAAF4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF3 Louise Daugherty Source Expert Review Green was added to DNAAF3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF2 Louise Daugherty Source Expert Review Green was added to DNAAF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF1 Louise Daugherty Source Expert Review Green was added to DNAAF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CFTR Louise Daugherty Source Expert Review Green was added to CFTR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CFAP54 Louise Daugherty Source Expert Review Amber was added to CFAP54.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CFAP46 Louise Daugherty Source Expert Review Amber was added to CFAP46.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CENPF Louise Daugherty Source Expert Review Green was added to CENPF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCNO Louise Daugherty Source Expert Review Green was added to CCNO.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC65 Louise Daugherty Source Expert Review Green was added to CCDC65.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC40 Louise Daugherty Source Expert Review Green was added to CCDC40.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC39 Louise Daugherty Source Expert Review Green was added to CCDC39.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC151 Louise Daugherty Source Expert Review Green was added to CCDC151.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC114 Louise Daugherty Source Expert Review Green was added to CCDC114.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC103 Louise Daugherty Source Expert Review Green was added to CCDC103.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 C21orf59 Louise Daugherty Source Expert Review Green was added to C21orf59.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 C11orf70 Louise Daugherty Source Expert Review Green was added to C11orf70.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 ARMC4 Louise Daugherty Source Expert Review Green was added to ARMC4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 AGPAT2 Louise Daugherty Source Expert Review Red was added to AGPAT2.
Respiratory ciliopathies including non-CF bronchiectasis v0.2 ZMYND10 Louise Daugherty reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 TTC25 Louise Daugherty reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 TAPT1 Louise Daugherty reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 STK36 Louise Daugherty reviewed gene: STK36: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SPAG17 Louise Daugherty reviewed gene: SPAG17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SPAG1 Louise Daugherty reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SCNN1G Louise Daugherty reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SCNN1B Louise Daugherty reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SCNN1A Louise Daugherty reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RSPH9 Louise Daugherty reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RSPH4A Louise Daugherty reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RSPH3 Louise Daugherty reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RSPH1 Louise Daugherty reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RPGR Louise Daugherty reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 PIK3CD Louise Daugherty reviewed gene: PIK3CD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 PIH1D3 Louise Daugherty reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 ORMDL3 Louise Daugherty reviewed gene: ORMDL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 OFD1 Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 NME8 Louise Daugherty reviewed gene: NME8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 MCIDAS Louise Daugherty reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 LRRC6 Louise Daugherty reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 LRRC56 Louise Daugherty reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 HYDIN Louise Daugherty reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 GAS8 Louise Daugherty reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DRC1 Louise Daugherty reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAL1 Louise Daugherty reviewed gene: DNAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAJB13 Louise Daugherty reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAI2 Louise Daugherty reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAI1 Louise Daugherty reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH9 Louise Daugherty reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH8 Louise Daugherty reviewed gene: DNAH8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH6 Louise Daugherty reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH5 Louise Daugherty reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH11 Louise Daugherty reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH1 Louise Daugherty reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF5 Louise Daugherty reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF4 Louise Daugherty reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF3 Louise Daugherty reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF2 Louise Daugherty reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF1 Louise Daugherty reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CFTR Louise Daugherty reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CFAP54 Louise Daugherty reviewed gene: CFAP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CFAP46 Louise Daugherty reviewed gene: CFAP46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CENPF Louise Daugherty reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCNO Louise Daugherty reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC65 Louise Daugherty reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC40 Louise Daugherty reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC39 Louise Daugherty reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC151 Louise Daugherty reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC114 Louise Daugherty reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC103 Louise Daugherty reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 C21orf59 Louise Daugherty reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 C11orf70 Louise Daugherty reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 ARMC4 Louise Daugherty reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 AGPAT2 Louise Daugherty reviewed gene: AGPAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.1 ZMYND10 Louise Daugherty gene: ZMYND10 was added
gene: ZMYND10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: ZMYND10 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 TTC25 Louise Daugherty gene: TTC25 was added
gene: TTC25 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: TTC25 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 TAPT1 Louise Daugherty gene: TAPT1 was added
gene: TAPT1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: TAPT1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 STK36 Louise Daugherty gene: STK36 was added
gene: STK36 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: STK36 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SPAG17 Louise Daugherty gene: SPAG17 was added
gene: SPAG17 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SPAG17 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SPAG1 Louise Daugherty gene: SPAG1 was added
gene: SPAG1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SPAG1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SCNN1G Louise Daugherty gene: SCNN1G was added
gene: SCNN1G was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SCNN1G was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SCNN1B Louise Daugherty gene: SCNN1B was added
gene: SCNN1B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SCNN1B was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SCNN1A Louise Daugherty gene: SCNN1A was added
gene: SCNN1A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SCNN1A was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RSPH9 Louise Daugherty gene: RSPH9 was added
gene: RSPH9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RSPH9 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RSPH4A Louise Daugherty gene: RSPH4A was added
gene: RSPH4A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RSPH4A was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RSPH3 Louise Daugherty gene: RSPH3 was added
gene: RSPH3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RSPH3 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RSPH1 Louise Daugherty gene: RSPH1 was added
gene: RSPH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RSPH1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RPGR Louise Daugherty gene: RPGR was added
gene: RPGR was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RPGR was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 PIK3CD Louise Daugherty gene: PIK3CD was added
gene: PIK3CD was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: PIK3CD was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 PIH1D3 Louise Daugherty gene: PIH1D3 was added
gene: PIH1D3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: PIH1D3 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 ORMDL3 Louise Daugherty gene: ORMDL3 was added
gene: ORMDL3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: ORMDL3 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 OFD1 Louise Daugherty gene: OFD1 was added
gene: OFD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: OFD1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 NME8 Louise Daugherty gene: NME8 was added
gene: NME8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: NME8 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 MCIDAS Louise Daugherty gene: MCIDAS was added
gene: MCIDAS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: MCIDAS was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 LRRC6 Louise Daugherty gene: LRRC6 was added
gene: LRRC6 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: LRRC6 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 LRRC56 Louise Daugherty gene: LRRC56 was added
gene: LRRC56 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: LRRC56 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 HYDIN Louise Daugherty gene: HYDIN was added
gene: HYDIN was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: HYDIN was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 GAS8 Louise Daugherty gene: GAS8 was added
gene: GAS8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: GAS8 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DRC1 Louise Daugherty gene: DRC1 was added
gene: DRC1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DRC1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAL1 Louise Daugherty gene: DNAL1 was added
gene: DNAL1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAL1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAJB13 Louise Daugherty gene: DNAJB13 was added
gene: DNAJB13 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAJB13 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAI2 Louise Daugherty gene: DNAI2 was added
gene: DNAI2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAI2 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAI1 Louise Daugherty gene: DNAI1 was added
gene: DNAI1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAI1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH9 Louise Daugherty gene: DNAH9 was added
gene: DNAH9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH9 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH8 Louise Daugherty gene: DNAH8 was added
gene: DNAH8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH8 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH6 Louise Daugherty gene: DNAH6 was added
gene: DNAH6 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH6 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH5 Louise Daugherty gene: DNAH5 was added
gene: DNAH5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH5 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH11 Louise Daugherty gene: DNAH11 was added
gene: DNAH11 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH11 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH1 Louise Daugherty gene: DNAH1 was added
gene: DNAH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF5 Louise Daugherty gene: DNAAF5 was added
gene: DNAAF5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF5 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF4 Louise Daugherty gene: DNAAF4 was added
gene: DNAAF4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF4 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF3 Louise Daugherty gene: DNAAF3 was added
gene: DNAAF3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF3 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF2 Louise Daugherty gene: DNAAF2 was added
gene: DNAAF2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF2 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF1 Louise Daugherty gene: DNAAF1 was added
gene: DNAAF1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CFTR Louise Daugherty gene: CFTR was added
gene: CFTR was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CFTR was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CFAP54 Louise Daugherty gene: CFAP54 was added
gene: CFAP54 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CFAP54 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CFAP46 Louise Daugherty gene: CFAP46 was added
gene: CFAP46 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CFAP46 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CENPF Louise Daugherty gene: CENPF was added
gene: CENPF was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CENPF was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCNO Louise Daugherty gene: CCNO was added
gene: CCNO was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCNO was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC65 Louise Daugherty gene: CCDC65 was added
gene: CCDC65 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC65 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC40 Louise Daugherty gene: CCDC40 was added
gene: CCDC40 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC40 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC39 Louise Daugherty gene: CCDC39 was added
gene: CCDC39 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC39 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC151 Louise Daugherty gene: CCDC151 was added
gene: CCDC151 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC151 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC114 Louise Daugherty gene: CCDC114 was added
gene: CCDC114 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC114 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC103 Louise Daugherty gene: CCDC103 was added
gene: CCDC103 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC103 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 C21orf59 Louise Daugherty gene: C21orf59 was added
gene: C21orf59 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: C21orf59 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 C11orf70 Louise Daugherty gene: C11orf70 was added
gene: C11orf70 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: C11orf70 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 ARMC4 Louise Daugherty gene: ARMC4 was added
gene: ARMC4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: ARMC4 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 AGPAT2 Louise Daugherty gene: AGPAT2 was added
gene: AGPAT2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: AGPAT2 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.0 Ellen McDonagh Added Panel Respiratory ciliopathies including non-CF bronchiectasis
Set panel types to: GMS Rare Disease