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18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.54	CFAP221	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #279000) and the OMIM record was last accessed on 18 December 2025.
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.54	CFAP221	Achchuthan Shanmugasundram Phenotypes for gene: CFAP221 were changed from Ciliary dyskinesia, primary, 55, OMIM:279000 to Ciliary dyskinesia, primary, 55, OMIM:279000
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.53	CFAP221	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CFAP221.
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.53	CFAP54	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CFAP54.
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.53	NEK10	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #618781) and the OMIM record was last accessed on 18 December 2025.
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.53	NEK10	Achchuthan Shanmugasundram Phenotypes for gene: NEK10 were changed from Ciliary dyskinesia, primary, 44, OMIM:618781; ciliary dyskinesia, primary, 44, MONDO:0032914 to Ciliary dyskinesia, primary, 44, OMIM:618781; ciliary dyskinesia, primary, 44, MONDO:0032914
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.52	NEK10	Achchuthan Shanmugasundram Phenotypes for gene: NEK10 were changed from Ciliary dyskinesia, primary, 44, OMIM:618781, MONDO:0032914 to Ciliary dyskinesia, primary, 44, OMIM:618781; ciliary dyskinesia, primary, 44, MONDO:0032914
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.51	NEK10	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NEK10.
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.51	CFAP74	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620197) and the OMIM record was last accessed on 18 December 2025.
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.51	CFAP74	Achchuthan Shanmugasundram Phenotypes for gene: CFAP74 were changed from Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197 to Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197; ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CFAP74	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CFAP74.
18 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	EFCAB1	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: EFCAB1.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	WFDC2	Eleanor Williams Tag Q3_24_promote_green was removed from gene: WFDC2. Tag Q3_24_NHS_review was removed from gene: WFDC2. Tag to_be_confirmed_NHSE tag was added to gene: WFDC2.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	TUBB4B	Eleanor Williams Tag dd_review was removed from gene: TUBB4B. Tag Q1_25_ promote_green was removed from gene: TUBB4B.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	TTC12	Eleanor Williams Tag Q2_25_ promote_green was removed from gene: TTC12.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	TP73	Eleanor Williams Tag Q2_25_ promote_green was removed from gene: TP73.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	NEK10	Eleanor Williams Tag Q2_25_ promote_green was removed from gene: NEK10.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	GAS2L2	Eleanor Williams Tag Q3_24_promote_green was removed from gene: GAS2L2.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	EFCAB1	Eleanor Williams Tag Q2_25_ promote_green was removed from gene: EFCAB1.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	DNAJB13	Eleanor Williams Tag Q2_25_ promote_green was removed from gene: DNAJB13.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	DAW1	Eleanor Williams Tag Q2_25_ demote_red was removed from gene: DAW1. Tag Q2_25_expert_review was removed from gene: DAW1.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CFAP74	Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: CFAP74. Tag Q1_25_ promote_green was removed from gene: CFAP74. Tag Q1_25_ expert_review was removed from gene: CFAP74.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CFAP54	Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: CFAP54. Tag Q1_25_ promote_green was removed from gene: CFAP54.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CFAP221	Eleanor Williams Tag Q2_25_ promote_green was removed from gene: CFAP221.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CEP164	Eleanor Williams Tag Q2_25_ promote_green was removed from gene: CEP164.
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	WFDC2	Eleanor Williams commented on gene: WFDC2
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	TUBB4B	Eleanor Williams reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	TTC12	Eleanor Williams reviewed gene: TTC12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	TP73	Eleanor Williams reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	NEK10	Eleanor Williams reviewed gene: NEK10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	GAS2L2	Eleanor Williams edited their review of gene: GAS2L2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	EFCAB1	Eleanor Williams reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	DNAJB13	Eleanor Williams reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	DAW1	Eleanor Williams reviewed gene: DAW1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CFAP74	Eleanor Williams reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CFAP54	Eleanor Williams reviewed gene: CFAP54: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CFAP221	Eleanor Williams reviewed gene: CFAP221: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.50	CEP164	Eleanor Williams reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	TUBB4B	Eleanor Williams Source NHS GMS was added to TUBB4B. Source Expert Review Green was added to TUBB4B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	TTC12	Eleanor Williams Source NHS GMS was added to TTC12. Source Expert Review Green was added to TTC12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	TP73	Eleanor Williams Source NHS GMS was added to TP73. Source Expert Review Green was added to TP73. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	NEK10	Eleanor Williams Source NHS GMS was added to NEK10. Source Expert Review Green was added to NEK10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	GAS2L2	Eleanor Williams Source NHS GMS was added to GAS2L2. Source Expert Review Green was added to GAS2L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	EFCAB1	Eleanor Williams Source NHS GMS was added to EFCAB1. Source Expert Review Green was added to EFCAB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	DNAJB13	Eleanor Williams Source Expert Review Green was added to DNAJB13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	DAW1	Eleanor Williams Source Expert Review Red was added to DAW1. Rating Changed from Green List (high evidence) to Red List (low evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	CFAP74	Eleanor Williams Source NHS GMS was added to CFAP74. Source Expert Review Green was added to CFAP74. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	CFAP54	Eleanor Williams Source Expert Review Green was added to CFAP54. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	CFAP221	Eleanor Williams Source NHS GMS was added to CFAP221. Source Expert Review Green was added to CFAP221. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Dec 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.49	CEP164	Eleanor Williams Source NHS GMS was added to CEP164. Source Expert Review Green was added to CEP164. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
31 Oct 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.48	DNAJB13	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877. There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877. This gene is associated with 'Ciliary dyskinesia, primary, 34' phenotype in OMIM (MIM #617091) - OMIM accessed on 7 July 2025. There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.
30 Oct 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.48	DNAJB13	Ida Ertmanska Publications for gene: DNAJB13 were set to 27486783; 35166991
10 Oct 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.47	DNAH9	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 10 October 2025.
10 Oct 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.47	DNAH9	Achchuthan Shanmugasundram Phenotypes for gene: DNAH9 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 40, OMIM:618300; ciliary dyskinesia, primary, 40, MONDO:0032664
12 Aug 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.46	HYDIN	Arina Puzriakova Publications for gene: HYDIN were set to
12 Aug 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.45	HYDIN	Arina Puzriakova Phenotypes for gene: HYDIN were changed from Ciliary dyskinesia, primary, 5, 608647 to Ciliary dyskinesia, primary, 5, OMIM:608647
05 Aug 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	DNAJB13	Steven Cowman reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: None; Publications: 40637281; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	CFAP74	Achchuthan Shanmugasundram commented on gene: CFAP74: The ClinGen Motile Ciliopathy expert panel has updated the classification for the association of CFAP74 gene to ciliary dyskinesia, primary, 49, without situs inversus (MONDO:0859353) from 'Limited' to 'Moderate' on 18/06/2025. The reason for classification change is summarised in ClinGen (https://search.clinicalgenome.org/CCID:004429) as follows: "Recurated and changed classification from Limited to Moderate. Additional proband from a ClinVar submission, and additional immunofluorescence data from patients previously reported."
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	TEKT1	Achchuthan Shanmugasundram Tag disputed tag was added to gene: TEKT1.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	MNS1	Achchuthan Shanmugasundram Tag disputed tag was added to gene: MNS1.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	DNAH14	Achchuthan Shanmugasundram Tag disputed was removed from gene: DNAH14.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	DNAH14	Achchuthan Shanmugasundram Tag disputed tag was added to gene: DNAH14.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	DNAH8	Achchuthan Shanmugasundram Tag disputed tag was added to gene: DNAH8.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	DNAH6	Achchuthan Shanmugasundram Tag disputed tag was added to gene: DNAH6.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	CFAP43	Achchuthan Shanmugasundram Tag disputed tag was added to gene: CFAP43.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	AK7	Achchuthan Shanmugasundram Tag disputed tag was added to gene: AK7.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	BRWD1	Achchuthan Shanmugasundram Classified gene: BRWD1 as Red List (low evidence)
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.44	BRWD1	Achchuthan Shanmugasundram Gene: brwd1 has been classified as Red List (Low Evidence).
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.43	BRWD1	Achchuthan Shanmugasundram Tag disputed tag was added to gene: BRWD1.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.43	BRWD1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Ivone Leong below, biallelic BRWD1 variants have been reported in three unrelated patients displaying PCD-like phenotype recurring airway infections, bronchiectasis and rhinosinusitis. This gene is now associated with relevant phenotype in OMIM (MIM #620438). However, the association of BRWD1 gene with primary ciliary dyskinesia (MONDO:0016575) has been classified as 'Disputed' by the Motile Ciliopathy expert panel in ClinGen. Detailed information on this classification can be found in https://search.clinicalgenome.org/CCID:004289. The reason for their classification is as follows: "Individuals with variants in BRWD1 and clinical features of PCD are reported in the literature. However, no functional data support the pathogenicity of the variants and their association with PCD. No valid experimental evidence remains to support this curation."; to: As reviewed by Ivone Leong below, biallelic BRWD1 variants have been reported in three unrelated patients displaying PCD-like phenotype including recurring airway infections, bronchiectasis and rhinosinusitis. This gene is now associated with relevant phenotype in OMIM (MIM #620438). However, the association of BRWD1 gene with primary ciliary dyskinesia (MONDO:0016575) has been classified as 'Disputed' by the Motile Ciliopathy expert panel in ClinGen. Detailed information on this classification can be found in https://search.clinicalgenome.org/CCID:004289. The reason for their classification is as follows: "Individuals with variants in BRWD1 and clinical features of PCD are reported in the literature. However, no functional data support the pathogenicity of the variants and their association with PCD. No valid experimental evidence remains to support this curation."
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.43	DAW1	Achchuthan Shanmugasundram Classified gene: DAW1 as Green List (high evidence)
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.43	DAW1	Achchuthan Shanmugasundram Added comment: Comment on list classification: The evidence available is not sufficient for the association of this gene with green rating on this panel as respiratory phenotype was present only in one patient. Expert review is being sought from Genomic Laboratory Hubs on demotion of this gene from green to red.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.43	DAW1	Achchuthan Shanmugasundram Gene: daw1 has been classified as Green List (High Evidence).
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	DAW1	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has updated the classification for the association of DAW1 gene to ciliary dyskinesia, primary, 52 (MONDO:0957922) from 'Moderate' to 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008408. ClinGen has provided the following summary as the reason(s) for change: "The DAW1-PCD gene-disease relationship was changed to LIMITED pending more information on the respiratory and ultrastructural axoneme phenotypes of three sister patients carrying the p.Asn143Asp DAW1 variant OR the reporting of additional patients carrying biallelic DAW1 variants with laterality AND respiratory symptoms. The genetic evidence in this curation warranted scoring and the curation included strong experimental evidence from non-human model organisms, but the Motile Ciliopathy GCEP decided that this curation did not reach the level of a MODERATE classification." Below is the summary of previously published cases: PMID:28991257 - Two patients reported with biallelic DAW1 variants - Both of them presented with cardiac phenotypes including heterotaxy. One of them had Situs ambiguous and abdominal Situs Inversus. However, respiratory symptoms were not recorded in these patients. PMID:36074124 - Four individuals from two different families were reported with biallelic DAW1 variants. Three individuals from the first family were reported with features suggestive of mild primary ciliary dyskinesia. One individual had situs inversus (SI) without otosinopulmonary symptoms, another had SI and had a history of recurrent otitis media in childhood and the third had normal situs but is reported with lower respiratory tract infections, chronic wet cough and recurrent episodes of otitis media in early life. An unrelated Palestinian boy was reported with congenital heart disease including heterotaxy, and Situs ambiguous, however no respiratory symptoms or Otitis media were reported. The evidence available is not sufficient for the association of this gene with green rating on this panel as respiratory phenotype was present only in one patient.; to: The ClinGen Motile Ciliopathy expert panel has updated the classification for the association of DAW1 gene to ciliary dyskinesia, primary, 52 (MONDO:0957922) from 'Moderate' to 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008408. ClinGen has provided the following summary as the reason(s) for change: "The DAW1-PCD gene-disease relationship was changed to LIMITED pending more information on the respiratory and ultrastructural axoneme phenotypes of three sister patients carrying the p.Asn143Asp DAW1 variant OR the reporting of additional patients carrying biallelic DAW1 variants with laterality AND respiratory symptoms. The genetic evidence in this curation warranted scoring and the curation included strong experimental evidence from non-human model organisms, but the Motile Ciliopathy GCEP decided that this curation did not reach the level of a MODERATE classification." Below is the summary of previously published cases: PMID:28991257 - Two patients reported with biallelic DAW1 variants - Both of them presented with cardiac phenotypes including heterotaxy. One of them had Situs ambiguous and abdominal Situs Inversus. However, respiratory symptoms were not recorded in these patients. PMID:36074124 - Four individuals from two different families were reported with biallelic DAW1 variants. Three individuals from the first family were reported with features suggestive of mild primary ciliary dyskinesia. One individual had situs inversus (SI) without otosinopulmonary symptoms, another had SI and had a history of recurrent otitis media in childhood and the third had normal situs but is reported with lower respiratory tract infections, chronic wet cough and recurrent episodes of otitis media in early life. An unrelated Palestinian boy was reported with congenital heart disease including heterotaxy, and Situs ambiguous, however no respiratory symptoms or Otitis media were reported.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	DAW1	Achchuthan Shanmugasundram changed review comment from: DAW1 has the gene-disease validity rating of 'Limited' in ClinGen. ClinGen has rated this gene with 'Limited' rating as there are no reported respiratory symptoms in the cases. PMID:28991257 - Two patients reported with biallelic DAW1 variants - Both of them presented with cardiac phenotypes including heterotaxy. One of them had Situs ambiguous and abdominal Situs Inversus. However, respiratory symptoms were not recorded in these patients. PMID:36074124 - Four individuals from two different families were reported with biallelic DAW1 variants. Three individuals from the first family were reported with features suggestive of mild primary ciliary dyskinesia. One individual had situs inversus (SI) without otosinopulmonary symptoms, another had SI and had a history of recurrent otitis media in childhood and the third had normal situs but is reported with lower respiratory tract infections, chronic wet cough and recurrent episodes of otitis media in early life. An unrelated Palestinian boy was reported with congenital heart disease including heterotaxy, and Situs ambiguous, however no respiratory symptoms or Otitis media were reported. The evidence available is not sufficient for the association of this gene with green rating on this panel as respiratory phenotype was present only in one patient.; to: The ClinGen Motile Ciliopathy expert panel has updated the classification for the association of DAW1 gene to ciliary dyskinesia, primary, 52 (MONDO:0957922) from 'Moderate' to 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008408. ClinGen has provided the following summary as the reason(s) for change: "The DAW1-PCD gene-disease relationship was changed to LIMITED pending more information on the respiratory and ultrastructural axoneme phenotypes of three sister patients carrying the p.Asn143Asp DAW1 variant OR the reporting of additional patients carrying biallelic DAW1 variants with laterality AND respiratory symptoms. The genetic evidence in this curation warranted scoring and the curation included strong experimental evidence from non-human model organisms, but the Motile Ciliopathy GCEP decided that this curation did not reach the level of a MODERATE classification." Below is the summary of previously published cases: PMID:28991257 - Two patients reported with biallelic DAW1 variants - Both of them presented with cardiac phenotypes including heterotaxy. One of them had Situs ambiguous and abdominal Situs Inversus. However, respiratory symptoms were not recorded in these patients. PMID:36074124 - Four individuals from two different families were reported with biallelic DAW1 variants. Three individuals from the first family were reported with features suggestive of mild primary ciliary dyskinesia. One individual had situs inversus (SI) without otosinopulmonary symptoms, another had SI and had a history of recurrent otitis media in childhood and the third had normal situs but is reported with lower respiratory tract infections, chronic wet cough and recurrent episodes of otitis media in early life. An unrelated Palestinian boy was reported with congenital heart disease including heterotaxy, and Situs ambiguous, however no respiratory symptoms or Otitis media were reported. The evidence available is not sufficient for the association of this gene with green rating on this panel as respiratory phenotype was present only in one patient.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	STK36	Achchuthan Shanmugasundram changed review comment from: STK36 has the gene-disease validity rating of 'Moderate' in ClinGen, based on evidence from a single reported human case and experiment evidence from both non-human models and patient cell line. Hence, the evidence is only sufficient for an amber rating.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of STK36 gene to ciliary dyskinesia, primary, 46 (MONDO:0030332) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008521. However, this 'moderate' rating in ClinGen was based on evidence from a single reported human case and experiment evidence from both non-human models and patient cell line. This evidence is only sufficient for an amber rating, as per rating criteria used by PanelApp.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	GAS2L2	Achchuthan Shanmugasundram commented on gene: GAS2L2: The ClinGen Motile Ciliopathy expert panel has classified the association of GAS2L2 gene to ciliary dyskinesia, primary, 41 (MONDO:0032757) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:004922.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	DNAJB13	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877. There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877. There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	DNAJB13	Achchuthan Shanmugasundram changed review comment from: DNAJB13 has the gene-disease validity rating of 'Moderate' in ClinGen. There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877. There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	CFAP46	Achchuthan Shanmugasundram changed review comment from: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene. PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus. In addition, this gene-disease association is supported by Chlamydomonas reinhardtii null mutant model (PMID:22573824) and gene expression data (PMID:23715323). In addition, immunofluorescence microscopy analyses of respiratory epithelial cells show that CFAP46 localises along the entire ciliary axoneme in healthy individuals but is lost in the respiratory cells of a CFAP46-PCD patient (PMID:39362668). This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene. As reviewed by Zornitza Stark below, the authors speculate that LEFTY1 variant might be responsible for the phenotype. PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus. In addition, this gene-disease association is supported by Chlamydomonas reinhardtii null mutant model (PMID:22573824) and gene expression data (PMID:23715323). In addition, immunofluorescence microscopy analyses of respiratory epithelial cells show that CFAP46 localises along the entire ciliary axoneme in healthy individuals but is lost in the respiratory cells of a CFAP46-PCD patient (PMID:39362668). This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	CFAP46	Achchuthan Shanmugasundram Classified gene: CFAP46 as Red List (low evidence)
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	CFAP46	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one case reported with biallelic CFAP46 SNVs and respiratory phenotype. There is also functional evidence available in support of the association. However, these are high frequency variants with homozygotes in gnomAD. Hence, this gene is rated red with the current evidence.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.42	CFAP46	Achchuthan Shanmugasundram Gene: cfap46 has been classified as Red List (Low Evidence).
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	CFAP46	Achchuthan Shanmugasundram Deleted their comment
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	CFAP46	Achchuthan Shanmugasundram edited their review of gene: CFAP46: Changed rating: RED
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	CFAP221	Achchuthan Shanmugasundram changed review comment from: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss. This gene has also been associated with relevant phenotypes in OMIM (MIM #279000).; to: The ClinGen Motile Ciliopathy expert panel has classified the association of CFAP221 gene to primary ciliary dyskinesia (MONDO:0016575) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:004421. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss. This gene has also been associated with relevant phenotypes in OMIM (MIM #279000).
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	TP73	Achchuthan Shanmugasundram changed review comment from: TP73 has the gene-disease validity rating of 'Strong' in ClinGen. PMID:34077761 - Five different homozygous loss-of-function variants in TP73 gene have been reported in seven individuals from five unrelated families. They presented with a chronic airway disease, and brain malformation consistent with lissencephaly. Respiratory distress syndrome and recurrent respiratory infections have been reported in five and six patients respectively. There is also some experimental evidence available. This gene has been associated with relevant phenotypes in both OMIM (MIM #619466) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature; to: The ClinGen Motile Ciliopathy expert panel has classified the association of TP73 gene to ciliary dyskinesia, primary, 47, and lissencephaly (MONDO:0030346) as 'Strong'. More information can be found in https://search.clinicalgenome.org/CCID:006420. PMID:34077761 - Five different homozygous loss-of-function variants in TP73 gene have been reported in seven individuals from five unrelated families. They presented with a chronic airway disease, and brain malformation consistent with lissencephaly. Respiratory distress syndrome and recurrent respiratory infections have been reported in five and six patients respectively. There is also some experimental evidence available. This gene has been associated with relevant phenotypes in both OMIM (MIM #619466) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	NEK10	Achchuthan Shanmugasundram changed review comment from: NEK10 has the gene-disease validity rating of 'Strong' in ClinGen. Additional cases reported with ciliopathy now. PMID:32414360 - Two siblings were reported with a classical primary ciliary dyskinesia and were identified with a homozygous truncating variant (p.Tyr1134Ter) in the NEK10 gene. They both presented with bronchiectasis and chronic cough. PMID:35728977 - Using the genetic data from severe bronchiectasis patients recruited to the Genomics England 100k Genomes Project, one patient was identified with compound heterozugous variants (c.1A>G & c.1028+1G>T). This gene has been associated with relevant phenotypes in OMIM (MIM #618781).; to: The ClinGen Motile Ciliopathy expert panel has classified the association of NEK10 gene to ciliary dyskinesia, primary, 44 (MONDO:0032914) as 'Strong'. More information can be found in https://search.clinicalgenome.org/CCID:005617. Additional cases reported with ciliopathy now. PMID:32414360 - Two siblings were reported with a classical primary ciliary dyskinesia and were identified with a homozygous truncating variant (p.Tyr1134Ter) in the NEK10 gene. They both presented with bronchiectasis and chronic cough. PMID:35728977 - Using the genetic data from severe bronchiectasis patients recruited to the Genomics England 100k Genomes Project, one patient was identified with compound heterozugous variants (c.1A>G & c.1028+1G>T). This gene has been associated with relevant phenotypes in OMIM (MIM #618781).
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	EFCAB1	Achchuthan Shanmugasundram changed review comment from: EFCAB1 has the gene-disease validity rating of 'Strong' in ClinGen. PMID:36727596 - Three individuals from three unrelated families were identified with three different homozygous variants in EFCAB1 gene (p.Arg98Ter, p.Glu123Ter & p.Glu40Trpfs16). All three patients presented with situs inversus/ situs ambiguous, while chronic rhino-sinusitis was reported in one, and recurrent pneumonia and respiratory insufficiency were reported in another patient. There is also some functional evidence available. This gene has also been associated with relevant phenotype in OMIM (MIM #620642). Sources: Literature; to: The ClinGen Motile Ciliopathy expert panel has classified the association of EFCAB1 gene to ciliary dyskinesia, primary, 53 (MONDO:0957991) as 'Strong'. More information can be found in https://search.clinicalgenome.org/CCID:008800. PMID:36727596 - Three individuals from three unrelated families were identified with three different homozygous variants in EFCAB1 gene (p.Arg98Ter, p.Glu123Ter & p.Glu40Trpfs16). All three patients presented with situs inversus/ situs ambiguous, while chronic rhino-sinusitis was reported in one, and recurrent pneumonia and respiratory insufficiency were reported in another patient. There is also some functional evidence available. This gene has also been associated with relevant phenotype in OMIM (MIM #620642). Sources: Literature
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	TUBB4B	Achchuthan Shanmugasundram commented on gene: TUBB4B: The ClinGen Motile Ciliopathy expert panel has classified the association of TUBB4B gene to TUBB4B-related ciliopathy (MONDO:1060115) as 'Definitive'. More information can be found in https://search.clinicalgenome.org/CCID:006481.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	TTC12	Achchuthan Shanmugasundram changed review comment from: TTC12 has the gene-disease validity rating of 'Definitive' in ClinGen. PMID:36273201 - Five unrelated families with multisystem ciliopathy syndromes were studies, of which three were identified with biallelic variants in TTC12 gene. Two of them had respiratory phenotype. PMID:37325566 - Three unrelated male patients from a large cohort of infertile Chinese males with asthenoteratozoospermia were identified with homozygous TTC12 variants. They also had a mild PCD-related nasosinusitis phenotype, which is a respiratory cilia impairment. However, they declined to undergo further investigation. PMID:38992144 - A novel homozygous missense TTC12 variant was identified in an infertile Pakistani male with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia. The patient also presented with sinusitis.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of TTC12 gene to ciliary dyskinesia, primary, 45 (MONDO:0032924) as 'Definitive'. More information can be found in https://search.clinicalgenome.org/CCID:008762. PMID:36273201 - Five unrelated families with multisystem ciliopathy syndromes were studies, of which three were identified with biallelic variants in TTC12 gene. Two of them had respiratory phenotype. PMID:37325566 - Three unrelated male patients from a large cohort of infertile Chinese males with asthenoteratozoospermia were identified with homozygous TTC12 variants. They also had a mild PCD-related nasosinusitis phenotype, which is a respiratory cilia impairment. However, they declined to undergo further investigation. PMID:38992144 - A novel homozygous missense TTC12 variant was identified in an infertile Pakistani male with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia. The patient also presented with sinusitis.
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	CEP164	Achchuthan Shanmugasundram changed review comment from: CEP164 has the gene-disease validity rating of 'Definitive' in ClinGen. As per ClinGen curation, seven different variants have been reported in 6 probands in four publications (PMIDs: 22863007, 34132027, 27708425, 36273371), of which 3 probands have been associated with non-CF bronchiectasis. Two of them also had cough, pneumonia, rhinitis and/ or recurrent infections. PMID:22863007 - This study reported four different patients with biallelic CEP164 variants, of which one patient with homozygous variant (p.Arg576Ter) had cerebeller vermis hypoplasia, facial dysmorphism, obesity, bronchiectasis and polydactyly in addition to nephronophthisis. PMID:34556108 - 21 probands from the PCD cohort and 52 probands from non-CF bronchiectasis cohort were recruited in Wessex Genome Medicine Centre (GMC) and their genomes sequenced as part of Genomics England 100k genomes project. Compound heterozygous variants in CEP164 (p.Gln1410Ter/ p.Arg576Ter) were reported in one of these probands from non-CF bronchiectasis cohort. PMID:36273371 - A patient with bronchiectasis was reported with atypical motile ciliopathy phenotype and the same compound heterozygous CEP164 variants as above. Sources: Literature; to: The ClinGen Kidney Cystic and Ciliopathy Disorders expert panel has classified the association of CEP164 gene to ciliopathy (MONDO:0005308) as 'Definitive'. More information can be found in https://search.clinicalgenome.org/CCID:004416. As per ClinGen curation, seven different variants have been reported in 6 probands in four publications (PMIDs: 22863007, 34132027, 27708425, 36273371), of which 3 probands have been associated with non-CF bronchiectasis. Two of them also had cough, pneumonia, rhinitis and/ or recurrent infections. PMID:22863007 - This study reported four different patients with biallelic CEP164 variants, of which one patient with homozygous variant (p.Arg576Ter) had cerebeller vermis hypoplasia, facial dysmorphism, obesity, bronchiectasis and polydactyly in addition to nephronophthisis. PMID:34556108 - 21 probands from the PCD cohort and 52 probands from non-CF bronchiectasis cohort were recruited in Wessex Genome Medicine Centre (GMC) and their genomes sequenced as part of Genomics England 100k genomes project. Compound heterozygous variants in CEP164 (p.Gln1410Ter/ p.Arg576Ter) were reported in one of these probands from non-CF bronchiectasis cohort. PMID:36273371 - A patient with bronchiectasis was reported with atypical motile ciliopathy phenotype and the same compound heterozygous CEP164 variants as above. Sources: Literature
17 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	CFAP54	Achchuthan Shanmugasundram commented on gene: CFAP54: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive CFAP54 variants to ciliary dyskinesia, primary, 54 (MONDO:0100607) as 'Strong'. More information can be found in https://search.clinicalgenome.org/
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	CFAP46	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is only one case reported with biallelic CFFAP46 SNVs and respiratory phenotype. There is also functional evidence available in support of the association. Hence, this gene can be rated amber with the current evidence.; to: Comment on list classification: There is only one case reported with biallelic CFAP46 SNVs and respiratory phenotype. There is also functional evidence available in support of the association. Hence, this gene can be rated amber with the current evidence.
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.41	DNAH8	Achchuthan Shanmugasundram Phenotypes for gene: DNAH8 were changed from Ciliopathies to Spermatogenic failure 46, OMIM:619095; primary ciliary dyskinesia, MONDO:0016575
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.40	DNAH8	Achchuthan Shanmugasundram Classified gene: DNAH8 as Red List (low evidence)
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.40	DNAH8	Achchuthan Shanmugasundram Gene: dnah8 has been classified as Red List (Low Evidence).
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.39	DNAH8	Achchuthan Shanmugasundram Tag watchlist was removed from gene: DNAH8.
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.39	DNAH8	Achchuthan Shanmugasundram reviewed gene: DNAH8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 46, OMIM:619095, primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.39	DNAH6	Achchuthan Shanmugasundram Phenotypes for gene: DNAH6 were changed from to primary ciliary dyskinesia, MONDO:0016575
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.38	DNAH6	Achchuthan Shanmugasundram Mode of inheritance for gene: DNAH6 was changed from to BIALLELIC, autosomal or pseudoautosomal
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.37	DNAH6	Achchuthan Shanmugasundram Classified gene: DNAH6 as Red List (low evidence)
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.37	DNAH6	Achchuthan Shanmugasundram Gene: dnah6 has been classified as Red List (Low Evidence).
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.36	DNAH6	Achchuthan Shanmugasundram reviewed gene: DNAH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.36	TEKT1	Achchuthan Shanmugasundram Phenotypes for gene: TEKT1 were changed from to primary ciliary dyskinesia, MONDO:0016575
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.35	TEKT1	Achchuthan Shanmugasundram edited their review of gene: TEKT1: Changed phenotypes to: primary ciliary dyskinesia, MONDO:0016575
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.35	TEKT1	Achchuthan Shanmugasundram gene: TEKT1 was added gene: TEKT1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: TEKT1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: TEKT1 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive TEKT1 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:008874. Sources: ClinGen
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.34	MNS1	Achchuthan Shanmugasundram gene: MNS1 was added gene: MNS1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MNS1 were set to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948 Review for gene: MNS1 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive MNS1 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:005401. Sources: ClinGen
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.33	DNAH14	Achchuthan Shanmugasundram gene: DNAH14 was added gene: DNAH14 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH14 were set to primary ciliary dyskinesia, MONDO:0016575 Review for gene: DNAH14 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel is currently reviewing the evidence for the association of DNAH14 gene to primary ciliary dyskinesia (MONDO:0016575). More information can be found in https://search.clinicalgenome.org/kb/genes/HGNC:2945. Sources: ClinGen
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.32	CFAP43	Achchuthan Shanmugasundram Source Literature was removed from CFAP43. Source ClinGen was added to CFAP43.
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.31	CFAP43	Achchuthan Shanmugasundram gene: CFAP43 was added gene: CFAP43 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: CFAP43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFAP43 were set to Spermatogenic failure 19, OMIM:617592; primary ciliary dyskinesia, MONDO:0016575 Review for gene: CFAP43 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive CFAP43 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:004425. Sources: Literature
15 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.30	BRWD1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Ivone Leong below, biallelic BRWD1 variants have been reported in three unrelated patients displaying PCD-like phenotype recurring airway infections, bronchiectasis and rhinosinusitis. This gene is now associated with relevant phenotype in OMIM (MIM #620438). However, the association of BRWD1 gene with primary ciliary dyskinesia (MONDO:0016575) has been classified as 'Disputed' by the Motile Ciliopathy expert panel in ClinGen. Detailed information on this classification can be found in https://search.clinicalgenome.org/CCID:004289.; to: As reviewed by Ivone Leong below, biallelic BRWD1 variants have been reported in three unrelated patients displaying PCD-like phenotype recurring airway infections, bronchiectasis and rhinosinusitis. This gene is now associated with relevant phenotype in OMIM (MIM #620438). However, the association of BRWD1 gene with primary ciliary dyskinesia (MONDO:0016575) has been classified as 'Disputed' by the Motile Ciliopathy expert panel in ClinGen. Detailed information on this classification can be found in https://search.clinicalgenome.org/CCID:004289. The reason for their classification is as follows: "Individuals with variants in BRWD1 and clinical features of PCD are reported in the literature. However, no functional data support the pathogenicity of the variants and their association with PCD. No valid experimental evidence remains to support this curation."
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.30	BRWD1	Achchuthan Shanmugasundram reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: 33389130; Phenotypes: Ciliary dyskinesia, primary, 51, OMIM:620438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.30	AK7	Achchuthan Shanmugasundram gene: AK7 was added gene: AK7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: AK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK7 were set to ?Spermatogenic failure 27, OMIM:617965; primary ciliary dyskinesia, MONDO:0016575 Review for gene: AK7 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive AK7 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:004087. Sources: ClinGen
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.29	IFT74	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive IFT74 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008711.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive IFT74 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008711.
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.29	IFT74	Achchuthan Shanmugasundram Phenotypes for gene: IFT74 were changed from ciliary dyskinesia, MONDO:0016575 to primary ciliary dyskinesia, MONDO:0016575
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.28	DNAH10	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008793. Sources: ClinGen; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008793. Sources: ClinGen
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.28	IFT74	Achchuthan Shanmugasundram reviewed gene: IFT74: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.28	IFT74	Achchuthan Shanmugasundram Phenotypes for gene: IFT74 were changed from ciliary dyskinesia, MONDO:0016575) to ciliary dyskinesia, MONDO:0016575
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.27	IFT74	Achchuthan Shanmugasundram gene: IFT74 was added gene: IFT74 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT74 were set to ciliary dyskinesia, MONDO:0016575)
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.26	DNAH1	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified this association as 'Limited' for ciliary dyskinesia, primary, 37 (MONDO:0033204). As per ClinGen, three unrelated patients have been reported with DNAH1 variants and bronchiectasis and other respiratory phenotypes including cough and respiratory distress. However, one of these patients has been reported with heterozygous variants. PMID:25927852 - Two affected sisters with PCD were identified with homozygous missense p.Lys1154Gln variant. The variant segregated with the phenotypes and was not found in unaffected members of the family. The proband had a history of chronic rhinitis, frequent coughing and wheezing, nasal discharge, and was diagnosed with left lung bronchitis. She also showed situs inversus and bronchiectasis, in addition to infertility. PMID:31765523 - In a cohort of 265 patients with PCD, one patient was reported with heterozygous missense DNAH1 variant (p.Ala2599Ser). PMID:34210339 - In a cohort of 26 individuals with PCD, one patient was reported with homozygous DNAH1 variant (p.P3909Rfs33). The patient was infertile and presented with bronchiectasis, cough and sinusitis. As per ClinGen, this variant is recurrent in patients with isolated infertility and hence the association with PCD is doubtful. Hence, this gene should be rated red with the current evidence.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH1 variants to ciliary dyskinesia, primary, 37 (MONDO:0033204) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:004667. As per ClinGen, three unrelated patients have been reported with DNAH1 variants and bronchiectasis and other respiratory phenotypes including cough and respiratory distress. However, one of these patients has been reported with heterozygous variants. PMID:25927852 - Two affected sisters with PCD were identified with homozygous missense p.Lys1154Gln variant. The variant segregated with the phenotypes and was not found in unaffected members of the family. The proband had a history of chronic rhinitis, frequent coughing and wheezing, nasal discharge, and was diagnosed with left lung bronchitis. She also showed situs inversus and bronchiectasis, in addition to infertility. PMID:31765523 - In a cohort of 265 patients with PCD, one patient was reported with heterozygous missense DNAH1 variant (p.Ala2599Ser). PMID:34210339 - In a cohort of 26 individuals with PCD, one patient was reported with homozygous DNAH1 variant (p.P3909Rfs33). The patient was infertile and presented with bronchiectasis, cough and sinusitis. As per ClinGen, this variant is recurrent in patients with isolated infertility and hence the association with PCD is doubtful. Hence, this gene should be rated red with the current evidence.
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.26	DNAH7	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH7 variants to ciliary dyskinesia, primary, 50 (MONDO:0957252) as 'Limited'. Please see https://search.clinicalgenome.org/CCID:008791 for more information. Sources: ClinGen; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH7 variants to ciliary dyskinesia, primary, 50 (MONDO:0957252) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008791. Sources: ClinGen
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.26	DNAH10	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. Please see https://search.clinicalgenome.org/CCID:008793 for more information. Sources: ClinGen; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008793. Sources: ClinGen
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.26	DNAH7	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified this association as 'Limited' for ciliary dyskinesia, primary, 50 (MONDO:0957252). Sources: ClinGen; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH7 variants to ciliary dyskinesia, primary, 50 (MONDO:0957252) as 'Limited'. Please see https://search.clinicalgenome.org/CCID:008791 for more information. Sources: ClinGen
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.26	DNAH10	Achchuthan Shanmugasundram gene: DNAH10 was added gene: DNAH10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: DNAH10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH10 were set to Spermatogenic failure 56, OMIM:619515; primary ciliary dyskinesia, MONDO:0016575 Review for gene: DNAH10 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH10 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. Please see https://search.clinicalgenome.org/CCID:008793 for more information. Sources: ClinGen
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.25	DNAH7	Achchuthan Shanmugasundram gene: DNAH7 was added gene: DNAH7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: DNAH7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH7 were set to Ciliary dyskinesia, primary, 50, OMIM:620356; ciliary dyskinesia, primary, 50, MONDO:0957252 Review for gene: DNAH7 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified this association as 'Limited' for ciliary dyskinesia, primary, 50 (MONDO:0957252). Sources: ClinGen
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.24	DNAH1	Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel have classified this association as 'Limited' for ciliary dyskinesia, primary, 37 (MONDO:0033204). As per ClinGen, three unrelated patients have been reported with DNAH1 variants and bronchiectasis and other respiratory phenotypes including cough and respiratory distress. However, one of these patients has been reported with heterozygous variants. PMID:25927852 - Two affected sisters with PCD were identified with homozygous missense p.Lys1154Gln variant. The variant segregated with the phenotypes and was not found in unaffected members of the family. The proband had a history of chronic rhinitis, frequent coughing and wheezing, nasal discharge, and was diagnosed with left lung bronchitis. She also showed situs inversus and bronchiectasis, in addition to infertility. PMID:31765523 - In a cohort of 265 patients with PCD, one patient was reported with heterozygous missense DNAH1 variant (p.Ala2599Ser). PMID:34210339 - In a cohort of 26 individuals with PCD, one patient was reported with homozygous DNAH1 variant (p.P3909Rfs33). The patient was infertile and presented with bronchiectasis, cough and sinusitis. As per ClinGen, this variant is recurrent in patients with isolated infertility and hence the association with PCD is doubtful. Hence, this gene should be rated red with the current evidence.; to: The ClinGen Motile Ciliopathy expert panel has classified this association as 'Limited' for ciliary dyskinesia, primary, 37 (MONDO:0033204). As per ClinGen, three unrelated patients have been reported with DNAH1 variants and bronchiectasis and other respiratory phenotypes including cough and respiratory distress. However, one of these patients has been reported with heterozygous variants. PMID:25927852 - Two affected sisters with PCD were identified with homozygous missense p.Lys1154Gln variant. The variant segregated with the phenotypes and was not found in unaffected members of the family. The proband had a history of chronic rhinitis, frequent coughing and wheezing, nasal discharge, and was diagnosed with left lung bronchitis. She also showed situs inversus and bronchiectasis, in addition to infertility. PMID:31765523 - In a cohort of 265 patients with PCD, one patient was reported with heterozygous missense DNAH1 variant (p.Ala2599Ser). PMID:34210339 - In a cohort of 26 individuals with PCD, one patient was reported with homozygous DNAH1 variant (p.P3909Rfs33). The patient was infertile and presented with bronchiectasis, cough and sinusitis. As per ClinGen, this variant is recurrent in patients with isolated infertility and hence the association with PCD is doubtful. Hence, this gene should be rated red with the current evidence.
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.24	DNAH1	Achchuthan Shanmugasundram Phenotypes for gene: DNAH1 were changed from Too new - not yet linked to the PCD mutations publication to Ciliary dyskinesia, primary, 37, OMIM:617577; ciliary dyskinesia, primary, 37, MONDO:0033204
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.23	DNAH1	Achchuthan Shanmugasundram Publications for gene: DNAH1 were set to
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.22	DNAH1	Achchuthan Shanmugasundram Classified gene: DNAH1 as Red List (low evidence)
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.22	DNAH1	Achchuthan Shanmugasundram Gene: dnah1 has been classified as Red List (Low Evidence).
14 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.21	DNAH1	Achchuthan Shanmugasundram reviewed gene: DNAH1: Rating: RED; Mode of pathogenicity: None; Publications: 25927852, 31765523, 34210339; Phenotypes: Ciliary dyskinesia, primary, 37, OMIM:617577, ciliary dyskinesia, primary, 37, MONDO:0033204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.21	CFAP46	Achchuthan Shanmugasundram Classified gene: CFAP46 as Amber List (moderate evidence)
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.21	CFAP46	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one case reported with biallelic CFFAP46 SNVs and respiratory phenotype. There is also functional evidence available in support of the association. Hence, this gene can be rated amber with the current evidence.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.21	CFAP46	Achchuthan Shanmugasundram Gene: cfap46 has been classified as Amber List (Moderate Evidence).
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.20	CFAP46	Achchuthan Shanmugasundram Publications for gene: CFAP46 were set to 29843777; 39362668
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	CFAP46	Achchuthan Shanmugasundram edited their review of gene: CFAP46: Changed rating: AMBER; Changed publications to: 22573824, 23715323, 29843777, 39362668
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	CFAP46	Achchuthan Shanmugasundram changed review comment from: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene. PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene. PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus. In addition, this gene-disease association is supported by Chlamydomonas reinhardtii null mutant model (PMID:22573824) and gene expression data (PMID:23715323). In addition, immunofluorescence microscopy analyses of respiratory epithelial cells show that CFAP46 localises along the entire ciliary axoneme in healthy individuals but is lost in the respiratory cells of a CFAP46-PCD patient (PMID:39362668). This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	CFAP46	Achchuthan Shanmugasundram edited their review of gene: CFAP46: Changed publications to: 22573824, 29843777, 39362668
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	DAW1	Achchuthan Shanmugasundram edited their review of gene: DAW1: Changed rating: RED; Changed publications to: 28991257, 36074124; Changed phenotypes to: Ciliary dyskinesia, primary, 52, OMIM:620570
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	DAW1	Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: DAW1.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	DAW1	Achchuthan Shanmugasundram Tag Q2_25_ demote_red tag was added to gene: DAW1.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	DAW1	Achchuthan Shanmugasundram changed review comment from: DAW1 has the gene-disease validity rating of 'Limited' in ClinGen. There are no reported respiratory symptoms in the cases, and only had situs inversus.; to: DAW1 has the gene-disease validity rating of 'Limited' in ClinGen. ClinGen has rated this gene with 'Limited' rating as there are no reported respiratory symptoms in the cases. PMID:28991257 - Two patients reported with biallelic DAW1 variants - Both of them presented with cardiac phenotypes including heterotaxy. One of them had Situs ambiguous and abdominal Situs Inversus. However, respiratory symptoms were not recorded in these patients. PMID:36074124 - Four individuals from two different families were reported with biallelic DAW1 variants. Three individuals from the first family were reported with features suggestive of mild primary ciliary dyskinesia. One individual had situs inversus (SI) without otosinopulmonary symptoms, another had SI and had a history of recurrent otitis media in childhood and the third had normal situs but is reported with lower respiratory tract infections, chronic wet cough and recurrent episodes of otitis media in early life. An unrelated Palestinian boy was reported with congenital heart disease including heterotaxy, and Situs ambiguous, however no respiratory symptoms or Otitis media were reported. The evidence available is not sufficient for the association of this gene with green rating on this panel as respiratory phenotype was present only in one patient.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	DAW1	Achchuthan Shanmugasundram edited their review of gene: DAW1: Added comment: DAW1 has the gene-disease validity rating of 'Limited' in ClinGen. There are no reported respiratory symptoms in the cases, and only had situs inversus.; Changed rating: AMBER
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	STK36	Achchuthan Shanmugasundram reviewed gene: STK36: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Ciliary dyskinesia, primary, 41, OMIM:618449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	GAS2L2	Achchuthan Shanmugasundram Tag watchlist was removed from gene: GAS2L2.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	DNAJB13	Achchuthan Shanmugasundram Classified gene: DNAJB13 as Amber List (moderate evidence)
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	DNAJB13	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases from two different publications) for the promotion of this gene to green rating in the next GMS update.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.19	DNAJB13	Achchuthan Shanmugasundram Gene: dnajb13 has been classified as Amber List (Moderate Evidence).
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.18	DNAJB13	Achchuthan Shanmugasundram Tag watchlist was removed from gene: DNAJB13. Tag Q2_25_ promote_green tag was added to gene: DNAJB13.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.18	DNAJB13	Achchuthan Shanmugasundram Publications for gene: DNAJB13 were set to 27486783
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.17	DNAJB13	Achchuthan Shanmugasundram reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: None; Publications: 35166991; Phenotypes: Ciliary dyskinesia, primary, 34, OMIM:617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.17	CFAP221	Achchuthan Shanmugasundram Classified gene: CFAP221 as Amber List (moderate evidence)
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.17	CFAP221	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available now for the promotion of this gene to green rating in the next GMS update.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.17	CFAP221	Achchuthan Shanmugasundram Gene: cfap221 has been classified as Amber List (Moderate Evidence).
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.16	CFAP221	Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: CFAP221.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.16	CFAP221	Achchuthan Shanmugasundram changed review comment from: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss.; to: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss. This gene has also been associated with relevant phenotypes in OMIM (MIM #279000).
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.16	CFAP221	Achchuthan Shanmugasundram Phenotypes for gene: CFAP221 were changed from Primary ciliary dyskinesia, MONDO:0016575 to Ciliary dyskinesia, primary, 55, OMIM:279000
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.15	CFAP221	Achchuthan Shanmugasundram Publications for gene: CFAP221 were set to 31636325; 39362668
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.14	CFAP221	Achchuthan Shanmugasundram changed review comment from: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants.; to: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss.
07 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.14	CFAP221	Achchuthan Shanmugasundram edited their review of gene: CFAP221: Changed publications to: 31636325, 38960684, 39362668, 40250778
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.14	CFAP221	Achchuthan Shanmugasundram edited their review of gene: CFAP221: Added comment: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants.; Changed rating: GREEN; Changed publications to: 31636325, 38960684, 39362668; Changed phenotypes to: Ciliary dyskinesia, primary, 55, OMIM:279000
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.14	CFAP221	Achchuthan Shanmugasundram Deleted their comment
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.14	TP73	Achchuthan Shanmugasundram Classified gene: TP73 as Amber List (moderate evidence)
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.14	TP73	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.14	TP73	Achchuthan Shanmugasundram Gene: tp73 has been classified as Amber List (Moderate Evidence).
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.13	TP73	Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: TP73.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.13	TP73	Achchuthan Shanmugasundram gene: TP73 was added gene: TP73 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761 Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 Review for gene: TP73 was set to GREEN Added comment: TP73 has the gene-disease validity rating of 'Strong' in ClinGen. PMID:34077761 - Five different homozygous loss-of-function variants in TP73 gene have been reported in seven individuals from five unrelated families. They presented with a chronic airway disease, and brain malformation consistent with lissencephaly. Respiratory distress syndrome and recurrent respiratory infections have been reported in five and six patients respectively. There is also some experimental evidence available. This gene has been associated with relevant phenotypes in both OMIM (MIM #619466) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.12	NEK10	Achchuthan Shanmugasundram Classified gene: NEK10 as Amber List (moderate evidence)
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.12	NEK10	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available now from three different studies for the association of biallelic variants in NEK10 gene with this panel. Hence, this gene can be promoted to green rating in the next GMS update.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.12	NEK10	Achchuthan Shanmugasundram Gene: nek10 has been classified as Amber List (Moderate Evidence).
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.11	NEK10	Achchuthan Shanmugasundram Publications for gene: NEK10 were set to 31959991; 32414360
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.10	NEK10	Achchuthan Shanmugasundram Tag watchlist was removed from gene: NEK10. Tag Q2_25_ promote_green tag was added to gene: NEK10.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.10	NEK10	Achchuthan Shanmugasundram reviewed gene: NEK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414360, 35728977; Phenotypes: Ciliary dyskinesia, primary, 44, OMIM:618781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.10	EFCAB1	Achchuthan Shanmugasundram Classified gene: EFCAB1 as Amber List (moderate evidence)
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.10	EFCAB1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases and some experimental evidence) for the promotion of this gene to green rating in the next GMS update.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.10	EFCAB1	Achchuthan Shanmugasundram Gene: efcab1 has been classified as Amber List (Moderate Evidence).
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.9	EFCAB1	Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: EFCAB1.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.9	EFCAB1	Achchuthan Shanmugasundram commented on gene: EFCAB1: The 'new-gene-name' tag has been added as the official HGNC gene symbol for EFCAB1 is CLXN.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.9	EFCAB1	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: EFCAB1.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.9	EFCAB1	Achchuthan Shanmugasundram gene: EFCAB1 was added gene: EFCAB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB1 were set to 36727596 Phenotypes for gene: EFCAB1 were set to Ciliary dyskinesia, primary, 53, OMIM:620642 Review for gene: EFCAB1 was set to GREEN Added comment: EFCAB1 has the gene-disease validity rating of 'Strong' in ClinGen. PMID:36727596 - Three individuals from three unrelated families were identified with three different homozygous variants in EFCAB1 gene (p.Arg98Ter, p.Glu123Ter & p.Glu40Trpfs*16). All three patients presented with situs inversus/ situs ambiguous, while chronic rhino-sinusitis was reported in one, and recurrent pneumonia and respiratory insufficiency were reported in another patient. There is also some functional evidence available. This gene has also been associated with relevant phenotype in OMIM (MIM #620642). Sources: Literature
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.8	TTC12	Achchuthan Shanmugasundram Classified gene: TTC12 as Amber List (moderate evidence)
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.8	TTC12	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (10 unrelated cases) for the association of biallelic TTC12 patients with respiratory ciliopathy. Hence, this gene can be promoted to green rating in the next GMS update.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.8	TTC12	Achchuthan Shanmugasundram Gene: ttc12 has been classified as Amber List (Moderate Evidence).
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.7	TTC12	Achchuthan Shanmugasundram Tag watchlist was removed from gene: TTC12. Tag Q2_25_ promote_green tag was added to gene: TTC12.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.7	TTC12	Achchuthan Shanmugasundram Publications for gene: TTC12 were set to 31978331
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.6	TTC12	Achchuthan Shanmugasundram reviewed gene: TTC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 36273201, 37325566, 38992144; Phenotypes: Ciliary dyskinesia, primary, 45, OMIM:618801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.6	CEP164	Achchuthan Shanmugasundram Classified gene: CEP164 as Amber List (moderate evidence)
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.6	CEP164	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated probands reported with biallelic CEP164 variants and non-CF bronchiectasis. Hence, this gene can be promoted to green rating in the next GMS update.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.6	CEP164	Achchuthan Shanmugasundram Gene: cep164 has been classified as Amber List (Moderate Evidence).
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.5	CEP164	Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: CEP164.
04 Jul 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.5	CEP164	Achchuthan Shanmugasundram gene: CEP164 was added gene: CEP164 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP164 were set to 22863007; 34556108; 36273371 Phenotypes for gene: CEP164 were set to Nephronophthisis 15, OMIM:614845; Bronchiectasis, HP:0002110 Review for gene: CEP164 was set to GREEN Added comment: CEP164 has the gene-disease validity rating of 'Definitive' in ClinGen. As per ClinGen curation, seven different variants have been reported in 6 probands in four publications (PMIDs: 22863007, 34132027, 27708425, 36273371), of which 3 probands have been associated with non-CF bronchiectasis. Two of them also had cough, pneumonia, rhinitis and/ or recurrent infections. PMID:22863007 - This study reported four different patients with biallelic CEP164 variants, of which one patient with homozygous variant (p.Arg576Ter) had cerebeller vermis hypoplasia, facial dysmorphism, obesity, bronchiectasis and polydactyly in addition to nephronophthisis. PMID:34556108 - 21 probands from the PCD cohort and 52 probands from non-CF bronchiectasis cohort were recruited in Wessex Genome Medicine Centre (GMC) and their genomes sequenced as part of Genomics England 100k genomes project. Compound heterozygous variants in CEP164 (p.Gln1410Ter/ p.Arg576Ter) were reported in one of these probands from non-CF bronchiectasis cohort. PMID:36273371 - A patient with bronchiectasis was reported with atypical motile ciliopathy phenotype and the same compound heterozygous CEP164 variants as above. Sources: Literature
20 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.4	CFAP74	Arina Puzriakova Tag watchlist was removed from gene: CFAP74.
20 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.4	CFAP74	Arina Puzriakova Tag Q1_25_ expert_review tag was added to gene: CFAP74.
20 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.4	CFAP74	Arina Puzriakova commented on gene: CFAP74
16 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.4	WFDC2	Arina Puzriakova Publications for gene: WFDC2 were set to 38626355
16 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.3	WFDC2	Arina Puzriakova Phenotypes for gene: WFDC2 were changed from bronchiectasis, MONDO:0004822; Nasal polyposis, HP:0100582 to Bronchiectasis and nasal polyposis, OMIM:620984
12 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.2	CCDC65	Arina Puzriakova Publications for gene: CCDC65 were set to
12 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.1	CCDC65	Arina Puzriakova Tag founder-effect tag was added to gene: CCDC65.
03 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.1	WFDC2	Steven Cowman edited their review of gene: WFDC2: Added comment: In addition to the 11 individuals reported in PMID 38626355 (see earlier review) there is now a further report (PMID 40401042) of three unrelated individuals from Japan with bronchiectasis who were all found to be homozygous for the same missense variant of WFDC2 (p.Cys97Trp). In keeping with the first series, all patients were reported to have upper lobe predominant bronchiectasis, sinus disease and low nasal NO, although ciliary ultrastructure was normal on EM and no pathogenic variants in CFTR or PCD-causing genes were found.; Changed publications to: PMID: 38626355, 40401042
03 Jun 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.1	WFDC2	Steven Cowman changed review comment from: Reported in 11 individuals from 10 different families, all of whom had nasal polyposis and nine with diffuse bronchiectasis, aged between 7 and 52 years. All those tested had impaired lung function (8/11) and Pseudomonas isolation (8/11). The bronchiectasis was noted to have an upper-lobe predominance in a manner similar to CF. Low nasal NO levels were reported in all (9/11) tested individuals, although no disease causing variants were found in CFTR or PCD-related genes and mucociliary studies found clearance within the normal range, and EM in 8 individuals found normal ciliary ultrastructure. Sweat chloride was normal in all (9/11) tested individuals. Seven pathogenic WFDC2 variants were found, with one missense variant (c.145T>C; p.Cys49Arg) found in 12/22 alleles from 8/11 individuals. Expression analysis of healthy controls found WFDC2 to be expressed in the respiratory epithelium. Glycosylated WFDC2 protein was detectable in the saliva of a healthy control and one heterozygous mother of an affected individual, but not three tested affected individuals. Structural analysis suggested the c.145T>C mutation disrupts N-linked glycosylation of WFDC2 and hence impairs secretion. Sources: Literature; to: Reported in 11 individuals from 10 different families, all of whom had nasal polyposis and nine with diffuse bronchiectasis, aged between 7 and 52 years. All those tested had impaired lung function (8/11) and Pseudomonas isolation (8/11). The bronchiectasis was noted to have an upper-lobe predominance in a manner similar to CF. Low nasal NO levels were reported in all (9/11) tested individuals, although no disease causing variants were found in CFTR or PCD-related genes and mucociliary studies found clearance within the normal range, and EM in 8 individuals found normal ciliary ultrastructure. Sweat chloride was normal in all (9/11) tested individuals. Seven pathogenic WFDC2 variants were found, with one missense variant (c.145T>C; p.Cys49Arg) found in 12/22 alleles from 8/11 individuals. Expression analysis of healthy controls found WFDC2 to be expressed in the respiratory epithelium. Glycosylated WFDC2 protein was detectable in the saliva of a healthy control and one heterozygous mother of an affected individual, but not three tested affected individuals. Structural analysis suggested the c.145T>C mutation disrupts N-linked glycosylation of WFDC2 and hence impairs secretion. Sources: Literature
30 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.1		Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2025-04-30
30 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v4.0		Achchuthan Shanmugasundram promoted panel to version 4.0
28 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.37	GAS8	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: GAS8.
28 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.37	GAS8	Achchuthan Shanmugasundram commented on gene: GAS8
28 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.37	CCDC65	Achchuthan Shanmugasundram commented on gene: CCDC65
28 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.37	CCDC65	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: CCDC65.
03 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.37	CFAP46	Achchuthan Shanmugasundram changed review comment from: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene. PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. This gene should be rated red with current evidence.; to: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene. PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
03 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.37	CFAP46	Achchuthan Shanmugasundram Phenotypes for gene: CFAP46 were changed from Heterotaxy to primary ciliary dyskinesia, MONDO:0016575
03 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.36	CFAP46	Achchuthan Shanmugasundram Publications for gene: CFAP46 were set to 29843777
03 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.35	CFAP46	Achchuthan Shanmugasundram Mode of inheritance for gene: CFAP46 was changed from to BIALLELIC, autosomal or pseudoautosomal
03 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.34	CFAP46	Achchuthan Shanmugasundram reviewed gene: CFAP46: Rating: RED; Mode of pathogenicity: None; Publications: 29843777, 39362668; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.34	CFAP221	Achchuthan Shanmugasundram Classified gene: CFAP221 as Amber List (moderate evidence)
02 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.34	CFAP221	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman, there are two unrelated families reported with biallelic CFAP221 variants and with a PCD phenotype including bronchiectasis. Hence, this gene can be rated amber with current evidence.
02 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.34	CFAP221	Achchuthan Shanmugasundram Gene: cfap221 has been classified as Amber List (Moderate Evidence).
02 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.33	CFAP221	Achchuthan Shanmugasundram reviewed gene: CFAP221: Rating: AMBER; Mode of pathogenicity: None; Publications: 31636325, 39362668; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.33	CFAP221	Achchuthan Shanmugasundram Publications for gene: CFAP221 were set to 31636325
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.32	CFAP54	Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CFAP54.
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.32	CFAP54	Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CFAP54.
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.32	CFAP54	Achchuthan Shanmugasundram Phenotypes for gene: CFAP54 were changed from to Ciliary dyskinesia, primary, 54, OMIM:621125
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.31	CFAP54	Achchuthan Shanmugasundram Publications for gene: CFAP54 were set to 26224312
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.30	CFAP54	Achchuthan Shanmugasundram Mode of inheritance for gene: CFAP54 was changed from to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.29	CFAP54	Achchuthan Shanmugasundram Classified gene: CFAP54 as Amber List (moderate evidence)
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.29	CFAP54	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman and associated with relevant phenotypes in OMIM (MIM #621125), there is sufficient evidence available (five unrelated families and mouse model) for the promotion of this gene to green rating on the next GMS update.
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.29	CFAP54	Achchuthan Shanmugasundram Gene: cfap54 has been classified as Amber List (Moderate Evidence).
01 Apr 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.28	CFAP54	Achchuthan Shanmugasundram reviewed gene: CFAP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 37725231, 39362668; Phenotypes: Ciliary dyskinesia, primary, 54, OMIM:621125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.28	CFAP74	Achchuthan Shanmugasundram Classified gene: CFAP74 as Amber List (moderate evidence)
31 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.28	CFAP74	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman and associated with relevant phenotypes in OMIM (MIM #620197), there is sufficient evidence available (four unrelated families in total) for the promotion of this gene to green rating on the next GMS update.
31 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.28	CFAP74	Achchuthan Shanmugasundram Gene: cfap74 has been classified as Amber List (Moderate Evidence).
31 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.27	CFAP74	Achchuthan Shanmugasundram Phenotypes for gene: CFAP74 were changed from Primary ciliary dyskinesia; infertility to Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197
31 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.26	CFAP74	Achchuthan Shanmugasundram Publications for gene: CFAP74 were set to 32555313
31 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	CFAP74	Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CFAP74. Tag Q1_25_ promote_green tag was added to gene: CFAP74.
31 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	CFAP74	Achchuthan Shanmugasundram reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: None; Publications: 32555313, 36047773, 39362668; Phenotypes: Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	CFAP54	Steven Cowman reviewed gene: CFAP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 39362668, 37725231; Phenotypes: Primary ciliary dyskinesia, bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	CFAP46	Steven Cowman reviewed gene: CFAP46: Rating: AMBER; Mode of pathogenicity: None; Publications: 39362668; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Mar 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	CFAP221	Steven Cowman reviewed gene: CFAP221: Rating: AMBER; Mode of pathogenicity: None; Publications: 31636325, 39362668; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Feb 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	CFAP74	Steven Cowman reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: None; Publications: 32555313, 36047773, 39362668; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Jan 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	TUBB4B	Achchuthan Shanmugasundram changed review comment from: PMID:38662826 reported a cohort of 12 patients with primary ciliary dyskinesia (PCD) and with heterozygous variants in TUBB4B gene. Four different variants were reported in these patients. Common clinical features of airway disease including chronic wet cough (7/12), recurrent infections (11/12), bronchiectasis (8/12) and rhinosinusitis (9/12) were observed across the cohort/ 6/12 patients were reported with hydrocephaly. Four patients with the p.Pro358Ser variant also presented with Leber congenital amaurosis (LCA) associated with sensorineural hearing loss (SNHL). Similar cellular phenotype was also observed in patient-derived respiratory epithelial cells. PMID:39115449 reported eight patients with PCD, of which one patient was identified with a de novo variant in TUBB4B gene. The PCD phenotype has not yet been reported in OMIM, while LCA phenotype is already associated with TUBB4B in OMIM (MIM #617879). Sources: Literature; to: PMID:38662826 reported a cohort of 12 patients with primary ciliary dyskinesia (PCD) and with heterozygous variants in TUBB4B gene. Four different variants were reported in these patients. Common clinical features of airway disease including chronic wet cough (7/12), recurrent infections (11/12), bronchiectasis (8/12) and rhinosinusitis (9/12) were observed across the cohort/ 6/12 patients were reported with hydrocephaly. Four patients with the p.Pro358Ser variant also presented with Leber congenital amaurosis (LCA) associated with sensorineural hearing loss (SNHL). Similar cellular phenotype was also observed in patient-derived respiratory epithelial cells. PMID:39115449 reported eight patients with PCD, of which one patient was identified with a de novo variant in TUBB4B gene. This patient presented with airways disease and hearing loss. The PCD phenotype has not yet been reported in OMIM, while LCA phenotype is already associated with TUBB4B in OMIM (MIM #617879). Sources: Literature
09 Jan 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	TUBB4B	Achchuthan Shanmugasundram Classified gene: TUBB4B as Amber List (moderate evidence)
09 Jan 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	TUBB4B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>10 unrelated cases and functional work) for the promotion of this gene to green rating on the next GMS update.
09 Jan 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.25	TUBB4B	Achchuthan Shanmugasundram Gene: tubb4b has been classified as Amber List (Moderate Evidence).
09 Jan 2025	Respiratory ciliopathies including non-CF bronchiectasis v3.24	TUBB4B	Achchuthan Shanmugasundram gene: TUBB4B was added gene: TUBB4B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature dd_review, Q1_25_ promote_green tags were added to gene: TUBB4B. Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB4B were set to 38662826; 39115449 Phenotypes for gene: TUBB4B were set to primary ciliary dyskinesia, MONDO:0016575 Review for gene: TUBB4B was set to GREEN Added comment: PMID:38662826 reported a cohort of 12 patients with primary ciliary dyskinesia (PCD) and with heterozygous variants in TUBB4B gene. Four different variants were reported in these patients. Common clinical features of airway disease including chronic wet cough (7/12), recurrent infections (11/12), bronchiectasis (8/12) and rhinosinusitis (9/12) were observed across the cohort/ 6/12 patients were reported with hydrocephaly. Four patients with the p.Pro358Ser variant also presented with Leber congenital amaurosis (LCA) associated with sensorineural hearing loss (SNHL). Similar cellular phenotype was also observed in patient-derived respiratory epithelial cells. PMID:39115449 reported eight patients with PCD, of which one patient was identified with a de novo variant in TUBB4B gene. The PCD phenotype has not yet been reported in OMIM, while LCA phenotype is already associated with TUBB4B in OMIM (MIM #617879). Sources: Literature
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.23	SPEF2	Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SPEF2. Tag Q4_23_NHS_review was removed from gene: SPEF2.
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.23	NME5	Achchuthan Shanmugasundram Tag watchlist was removed from gene: NME5. Tag Q4_23_promote_green was removed from gene: NME5. Tag Q4_23_NHS_review was removed from gene: NME5.
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.23	FOXJ1	Achchuthan Shanmugasundram Tag watchlist was removed from gene: FOXJ1. Tag Q4_23_promote_green was removed from gene: FOXJ1. Tag Q4_23_NHS_review was removed from gene: FOXJ1.
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.23	DAW1	Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: DAW1.
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.23	SPEF2	Achchuthan Shanmugasundram edited their review of gene: SPEF2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.23	NME5	Achchuthan Shanmugasundram commented on gene: NME5: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.23	FOXJ1	Achchuthan Shanmugasundram commented on gene: FOXJ1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.23	DAW1	Achchuthan Shanmugasundram edited their review of gene: DAW1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.22	SPEF2	Achchuthan Shanmugasundram Source Expert Review Green was added to SPEF2. Source NHS GMS was added to SPEF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.22	NME5	Achchuthan Shanmugasundram Source Expert Review Green was added to NME5. Source NHS GMS was added to NME5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.22	FOXJ1	Achchuthan Shanmugasundram Source Expert Review Green was added to FOXJ1. Source NHS GMS was added to FOXJ1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
04 Dec 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.22	DAW1	Achchuthan Shanmugasundram Source Expert Review Green was added to DAW1. Source NHS GMS was added to DAW1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
13 Nov 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.21	TAPT1	Arina Puzriakova Mode of inheritance for gene: TAPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
13 Nov 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.20	TAPT1	Arina Puzriakova Classified gene: TAPT1 as Red List (low evidence)
13 Nov 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.20	TAPT1	Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red in line with the Red review by Steven Cowman (Bristol Royal Infirmary). No reports of relevant phenotype associated with this gene.
13 Nov 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.20	TAPT1	Arina Puzriakova Gene: tapt1 has been classified as Red List (Low Evidence).
07 Nov 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.19	TAPT1	Steven Cowman reviewed gene: TAPT1: Rating: RED; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Oct 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.19	CCDC103	Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
28 Oct 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.19	CCDC103	Arina Puzriakova commented on gene: CCDC103
02 Oct 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.19	DAW1	Arina Puzriakova Phenotypes for gene: DAW1 were changed from motile ciliopathy laterality disorder to Ciliary dyskinesia, primary, 52, OMIM:620570
02 Oct 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.18	C11orf70	Arina Puzriakova Phenotypes for gene: C11orf70 were changed from Ciliary dyskinesia, primary, 38, 618063 to Ciliary dyskinesia, primary, 38, OMIM:618063
19 Sep 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.17	WFDC2	Achchuthan Shanmugasundram Classified gene: WFDC2 as Amber List (moderate evidence)
19 Sep 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.17	WFDC2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman, there is sufficient evidence available (10 unrelated families) for the association of this gene with green rating in the next GMS update.
19 Sep 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.17	WFDC2	Achchuthan Shanmugasundram Gene: wfdc2 has been classified as Amber List (Moderate Evidence).
19 Sep 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.16	WFDC2	Achchuthan Shanmugasundram Phenotypes for gene: WFDC2 were changed from bronchiectasis; nasal polyposis to bronchiectasis, MONDO:0004822; Nasal polyposis, HP:0100582
19 Sep 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.15	WFDC2	Achchuthan Shanmugasundram Publications for gene: WFDC2 were set to PMID: 38626355
19 Sep 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.14	WFDC2	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WFDC2. Tag Q3_24_NHS_review tag was added to gene: WFDC2.
19 Sep 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.14	WFDC2	Achchuthan Shanmugasundram reviewed gene: WFDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38626355; Phenotypes: bronchiectasis, MONDO:0004822, Nasal polyposis, HP:0100582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Sep 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.14	WFDC2	Steven Cowman gene: WFDC2 was added gene: WFDC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WFDC2 were set to PMID: 38626355 Phenotypes for gene: WFDC2 were set to bronchiectasis; nasal polyposis Review for gene: WFDC2 was set to GREEN Added comment: Reported in 11 individuals from 10 different families, all of whom had nasal polyposis and nine with diffuse bronchiectasis, aged between 7 and 52 years. All those tested had impaired lung function (8/11) and Pseudomonas isolation (8/11). The bronchiectasis was noted to have an upper-lobe predominance in a manner similar to CF. Low nasal NO levels were reported in all (9/11) tested individuals, although no disease causing variants were found in CFTR or PCD-related genes and mucociliary studies found clearance within the normal range, and EM in 8 individuals found normal ciliary ultrastructure. Sweat chloride was normal in all (9/11) tested individuals. Seven pathogenic WFDC2 variants were found, with one missense variant (c.145T>C; p.Cys49Arg) found in 12/22 alleles from 8/11 individuals. Expression analysis of healthy controls found WFDC2 to be expressed in the respiratory epithelium. Glycosylated WFDC2 protein was detectable in the saliva of a healthy control and one heterozygous mother of an affected individual, but not three tested affected individuals. Structural analysis suggested the c.145T>C mutation disrupts N-linked glycosylation of WFDC2 and hence impairs secretion. Sources: Literature
19 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.14	GAS2L2	Achchuthan Shanmugasundram Classified gene: GAS2L2 as Amber List (moderate evidence)
19 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.14	GAS2L2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and functional evidence available in support of the association of GAS2L2 with primary ciliary dyskinesia. Hence, this gene can be promoted to green rating in the next GMS update.
19 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.14	GAS2L2	Achchuthan Shanmugasundram Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
19 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.13	GAS2L2	Achchuthan Shanmugasundram Phenotypes for gene: GAS2L2 were changed from Primary ciliary dyskinesia to ?Ciliary dyskinesia, primary, 41, OMIM:618449
19 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.12	GAS2L2	Achchuthan Shanmugasundram Publications for gene: GAS2L2 were set to 30665704
19 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.11	GAS2L2	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GAS2L2.
19 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.11	GAS2L2	Achchuthan Shanmugasundram changed review comment from: PMID:36104176 reported the identification of a novel homozygous GAS2L2 variant (c.182C>T/ p.Thr61Met) in two sisters of Japanese descent with primary ciliary dyskinesia.; to: PMID:36104176 reported the identification of a novel homozygous GAS2L2 variant (c.182C>T/ p.Thr61Met) in two sisters of Japanese descent with primary ciliary dyskinesia.
19 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.11	GAS2L2	Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36104176; Phenotypes: ?Ciliary dyskinesia, primary, 41, OMIM:618449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jul 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.11	DAW1	Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: DAW1.
01 May 2024	Respiratory ciliopathies including non-CF bronchiectasis v3.11		Ivone Leong Panel version 3.10 has been signed off on 2024-05-01
11 Dec 2023	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.
11 Dec 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.9	SPEF2	Achchuthan Shanmugasundram Classified gene: SPEF2 as Amber List (moderate evidence)
11 Dec 2023	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.
11 Dec 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.9	SPEF2	Achchuthan Shanmugasundram Gene: spef2 has been classified as Amber List (Moderate Evidence).
08 Dec 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.8	NME5	Achchuthan Shanmugasundram Classified gene: NME5 as Amber List (moderate evidence)
08 Dec 2023	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.
08 Dec 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.8	NME5	Achchuthan Shanmugasundram Gene: nme5 has been classified as Amber List (Moderate Evidence).
08 Dec 2023	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
08 Dec 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.6	NME5	Achchuthan Shanmugasundram Publications for gene: NME5 were set to 32185794; 31479451
08 Dec 2023	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.
08 Dec 2023	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).
08 Dec 2023	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
08 Dec 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.5	FOXJ1	Achchuthan Shanmugasundram Classified gene: FOXJ1 as Amber List (moderate evidence)
08 Dec 2023	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.
08 Dec 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.5	FOXJ1	Achchuthan Shanmugasundram Gene: foxj1 has been classified as Amber List (Moderate Evidence).
08 Dec 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.4	FOXJ1	Achchuthan Shanmugasundram Publications for gene: FOXJ1 were set to 31630787
08 Dec 2023	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.
08 Dec 2023	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
23 Nov 2023	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
23 Nov 2023	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
23 Nov 2023	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
23 Nov 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.3	SPEF2	Steven Cowman Deleted their review
23 Nov 2023	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
17 Oct 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.1	DAW1	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1.
17 Oct 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.1	DAW1	Achchuthan Shanmugasundram commented on gene: DAW1
22 Mar 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.1		Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
22 Mar 2023	Respiratory ciliopathies including non-CF bronchiectasis v3.0		Achchuthan Shanmugasundram promoted panel to version 3.0
31 Jan 2023	Respiratory ciliopathies including non-CF bronchiectasis v2.3	BRWD1	Sarah Leigh Tag Q2_21_rating was removed from gene: BRWD1.
31 Jan 2023	Respiratory ciliopathies including non-CF bronchiectasis v2.3	AGR2	Sarah Leigh Tag Q1_22_rating was removed from gene: AGR2.
31 Jan 2023	Respiratory ciliopathies including non-CF bronchiectasis v2.3	BRWD1	Sarah Leigh reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
31 Jan 2023	Respiratory ciliopathies including non-CF bronchiectasis v2.3	AGR2	Sarah Leigh reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
31 Jan 2023	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)
30 Nov 2022	Respiratory ciliopathies including non-CF bronchiectasis v2.1		Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30
30 Nov 2022	Respiratory ciliopathies including non-CF bronchiectasis v2.0		Arina Puzriakova promoted panel to version 2.0
25 Oct 2022	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).
25 Oct 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.61	DAW1	Sarah Leigh Classified gene: DAW1 as Amber List (moderate evidence)
25 Oct 2022	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.
25 Oct 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.61	DAW1	Sarah Leigh Gene: daw1 has been classified as Amber List (Moderate Evidence).
25 Oct 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.60	DAW1	Sarah Leigh Classified gene: DAW1 as Amber List (moderate evidence)
25 Oct 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.60	DAW1	Sarah Leigh Gene: daw1 has been classified as Amber List (Moderate Evidence).
25 Oct 2022	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
25 Oct 2022	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
13 Jul 2022	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
13 Jul 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.57	TTC25	Arina Puzriakova Publications for gene: TTC25 were set to 27486780
10 May 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.56	PIH1D3	Arina Puzriakova commented on gene: PIH1D3
10 May 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.56	PIH1D3	Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
07 May 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.56	LRRC56	Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
07 May 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.56	C11orf70	Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
23 Mar 2022	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
08 Mar 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.55	CFAP54	Ivone Leong Tag for-review was removed from gene: CFAP54.
08 Mar 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.55	CFAP46	Ivone Leong Tag for-review was removed from gene: CFAP46.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	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."
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.55	OFD1	Ivone Leong Tag for-review was removed from gene: OFD1.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.55	GAS2L2	Ivone Leong Tag for-review was removed from gene: GAS2L2.
08 Mar 2022	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.
08 Mar 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.55	RPGR	Ivone Leong Tag for-review was removed from gene: RPGR.
08 Mar 2022	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."
08 Mar 2022	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."
08 Mar 2022	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."
08 Mar 2022	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."
08 Mar 2022	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."
08 Mar 2022	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."
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	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.
08 Mar 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.55	GAS2L2	Ivone Leong commented on gene: GAS2L2
08 Mar 2022	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.
08 Mar 2022	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)
08 Mar 2022	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)
08 Mar 2022	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)
08 Mar 2022	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)
08 Mar 2022	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)
04 Jan 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.53	AGR2	Ivone Leong Tag Q1_22_rating tag was added to gene: AGR2.
04 Jan 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.53	AGR2	Ivone Leong Classified gene: AGR2 as Amber List (moderate evidence)
04 Jan 2022	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.
04 Jan 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.53	AGR2	Ivone Leong Gene: agr2 has been classified as Amber List (Moderate Evidence).
04 Jan 2022	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
04 Jan 2022	Respiratory ciliopathies including non-CF bronchiectasis v1.51	AGR2	Ivone Leong Publications for gene: AGR2 were set to PMID: 34952832
28 Dec 2021	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
18 Oct 2021	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
18 Oct 2021	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
18 Oct 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.49	PLK4	Sarah Leigh Publications for gene: PLK4 were set to 22503633; 34556108
18 Oct 2021	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
12 Oct 2021	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
12 Oct 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.46	CFAP221	Ivone Leong Classified gene: CFAP221 as Red List (low evidence)
12 Oct 2021	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.
12 Oct 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.46	CFAP221	Ivone Leong Gene: cfap221 has been classified as Red List (Low Evidence).
11 Oct 2021	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
04 May 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.45	BRWD1	Ivone Leong Classified gene: BRWD1 as Amber List (moderate evidence)
04 May 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.45	BRWD1	Ivone Leong Gene: brwd1 has been classified as Amber List (Moderate Evidence).
04 May 2021	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
24 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	TTC25	Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
24 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	TTC25	Catherine Snow commented on gene: TTC25
24 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	CCDC151	Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
24 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	CCDC151	Catherine Snow commented on gene: CCDC151
24 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	ARMC4	Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
24 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	ARMC4	Catherine Snow commented on gene: ARMC4
24 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	CCDC114	Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
24 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	CCDC114	Catherine Snow commented on gene: CCDC114
23 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	LRRC6	Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
23 Feb 2021	Respiratory ciliopathies including non-CF bronchiectasis v1.43	LRRC6	Catherine Snow commented on gene: LRRC6
02 Feb 2021	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
29 Jan 2021	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
28 Jan 2021	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.
28 Jan 2021	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.
25 Jan 2021	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
06 Jan 2021	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.41	SPEF2	Ivone Leong Classified gene: SPEF2 as Amber List (moderate evidence)
02 Dec 2020	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.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.41	SPEF2	Ivone Leong Gene: spef2 has been classified as Amber List (Moderate Evidence).
02 Dec 2020	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
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.39	DNAJB13	Ivone Leong Tag for-review tag was added to gene: DNAJB13.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.39	DNAJB13	Ivone Leong Publications for gene: DNAJB13 were set to
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.37	TTC12	Ivone Leong Classified gene: TTC12 as Amber List (moderate evidence)
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.37	TTC12	Ivone Leong Gene: ttc12 has been classified as Amber List (Moderate Evidence).
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.36	TTC12	Ivone Leong Classified gene: TTC12 as Green List (high evidence)
02 Dec 2020	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.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.36	TTC12	Ivone Leong Gene: ttc12 has been classified as Green List (High Evidence).
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.35	TTC12	Ivone Leong Tag for-review tag was added to gene: TTC12.
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.34	FOXJ1	Ivone Leong Classified gene: FOXJ1 as Amber List (moderate evidence)
02 Dec 2020	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.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.34	FOXJ1	Ivone Leong Gene: foxj1 has been classified as Amber List (Moderate Evidence).
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.33	FOXJ1	Ivone Leong Tag for-review tag was added to gene: FOXJ1.
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.32	NEK10	Ivone Leong Tag for-review tag was added to gene: NEK10.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.32	NEK10	Ivone Leong Classified gene: NEK10 as Amber List (moderate evidence)
02 Dec 2020	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.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.32	NEK10	Ivone Leong Gene: nek10 has been classified as Amber List (Moderate Evidence).
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.31	NEK10	Ivone Leong Added comment: Comment on publications: PMID: 32414360 is an additional case
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.31	NEK10	Ivone Leong Publications for gene: NEK10 were set to 31959991
02 Dec 2020	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
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.29	RPGR	Ivone Leong Tag for-review tag was added to gene: RPGR.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.29	RPGR	Ivone Leong Added comment: Comment on publications: PMID: 22888088 and 14627685 are extra cases
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.29	RPGR	Ivone Leong Publications for gene: RPGR were set to 10094550; 12920075; 16055928
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.27	RPGR	Ivone Leong Publications for gene: RPGR were set to
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.26	CFAP46	Ivone Leong Tag for-review tag was added to gene: CFAP46.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.26	CFAP46	Ivone Leong Phenotypes for gene: CFAP46 were changed from to Heterotaxy
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.25	CFAP46	Ivone Leong Publications for gene: CFAP46 were set to
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.24	CFAP54	Ivone Leong Tag for-review tag was added to gene: CFAP54.
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.24	CFAP54	Ivone Leong Publications for gene: CFAP54 were set to
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.23	CFAP57	Ivone Leong Classified gene: CFAP57 as Red List (low evidence)
02 Dec 2020	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.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.23	CFAP57	Ivone Leong Gene: cfap57 has been classified as Red List (Low Evidence).
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.22	CFAP57	Ivone Leong Publications for gene: CFAP57 were set to 32764743
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.20	ITCH	Ivone Leong Classified gene: ITCH as Red List (low evidence)
02 Dec 2020	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.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.20	ITCH	Ivone Leong Gene: itch has been classified as Red List (Low Evidence).
02 Dec 2020	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
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.18	GOLGA3	Ivone Leong Classified gene: GOLGA3 as Red List (low evidence)
02 Dec 2020	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.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.18	GOLGA3	Ivone Leong Gene: golga3 has been classified as Red List (Low Evidence).
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.17	AKNA	Ivone Leong Classified gene: AKNA as Red List (low evidence)
02 Dec 2020	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.
02 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.17	AKNA	Ivone Leong Gene: akna has been classified as Red List (Low Evidence).
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.16	NME5	Ivone Leong Classified gene: NME5 as Amber List (moderate evidence)
01 Dec 2020	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.
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.16	NME5	Ivone Leong Gene: nme5 has been classified as Amber List (Moderate Evidence).
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.15	NME5	Ivone Leong Tag watchlist tag was added to gene: NME5.
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.15	CFAP74	Ivone Leong Tag watchlist tag was added to gene: CFAP74.
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.15	NME5	Ivone Leong Publications for gene: NME5 were set to 32185794
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.14	CFAP74	Ivone Leong Classified gene: CFAP74 as Amber List (moderate evidence)
01 Dec 2020	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.
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.14	CFAP74	Ivone Leong Gene: cfap74 has been classified as Amber List (Moderate Evidence).
01 Dec 2020	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
01 Dec 2020	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
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.12	OFD1	Ivone Leong Tag for-review tag was added to gene: OFD1.
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.12	OFD1	Ivone Leong Publications for gene: OFD1 were set to 31366608; 32276433; 31373179; 16783569
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.11	OFD1	Ivone Leong Publications for gene: OFD1 were set to
01 Dec 2020	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
01 Dec 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.9	OFD1	Ivone Leong Phenotypes for gene: OFD1 were changed from Ciliopathies to Ciliopathies; Primary ciliary dyskinesia
20 Oct 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.8	GAS2L2	Arina Puzriakova Classified gene: GAS2L2 as Amber List (moderate evidence)
20 Oct 2020	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).
20 Oct 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.8	GAS2L2	Arina Puzriakova Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
20 Oct 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.7	GAS2L2	Arina Puzriakova Tag for-review tag was added to gene: GAS2L2.
05 Oct 2020	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
05 Oct 2020	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
05 Oct 2020	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
06 Jul 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.7	OFD1	Zornitza Stark Deleted their comment
06 Jul 2020	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
06 Jul 2020	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
03 Jul 2020	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.
03 Jul 2020	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.
03 Jul 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.7	OFD1	Simon Thomas commented on gene: OFD1
01 Jul 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
25 May 2020	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
04 May 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.7	GAS2L2	Eleanor Williams Classified gene: GAS2L2 as Green List (high evidence)
04 May 2020	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.
04 May 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.7	GAS2L2	Eleanor Williams Gene: gas2l2 has been classified as Green List (High Evidence).
02 Mar 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.4		Catherine Snow Panel version has been signed off
02 Mar 2020	Respiratory ciliopathies including non-CF bronchiectasis v1.3		Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
12 Nov 2019	Respiratory ciliopathies including non-CF bronchiectasis v1.2	FOXJ1	Louise Daugherty Publications for gene: FOXJ1 were set to PMID: 31630787
12 Nov 2019	Respiratory ciliopathies including non-CF bronchiectasis v1.1	FOXJ1	Louise Daugherty Classified gene: FOXJ1 as Red List (low evidence)
12 Nov 2019	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
12 Nov 2019	Respiratory ciliopathies including non-CF bronchiectasis v1.1	FOXJ1	Louise Daugherty Gene: foxj1 has been classified as Red List (Low Evidence).
05 Nov 2019	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
05 Nov 2019	Respiratory ciliopathies including non-CF bronchiectasis v1.0		Louise Daugherty promoted panel to version 1.0
05 Nov 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.157		Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
27 Sep 2019	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
27 Sep 2019	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
04 Sep 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.154	TTC25	Louise Daugherty Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary 35, 617092
04 Sep 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.153	TTC25	Louise Daugherty Publications for gene: TTC25 were set to
04 Sep 2019	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
22 Aug 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.151		Louise Daugherty List of related panels changed from to R189
21 Aug 2019	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
05 Jul 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.150	C11orf70	Louise Daugherty Publications for gene: C11orf70 were set to
16 May 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.148	C11orf70	Louise Daugherty Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, 618063
16 May 2019	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
16 May 2019	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
16 May 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.145	DNAJB13	Louise Daugherty Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, 617091
16 May 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.144	GAS2L2	Louise Daugherty Classified gene: GAS2L2 as Amber List (moderate evidence)
16 May 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.144	GAS2L2	Louise Daugherty Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
16 May 2019	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
09 May 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.142	C21orf59	Louise Daugherty Tag new-gene-name tag was added to gene: C21orf59.
09 May 2019	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
04 Feb 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.142	C11orf70	Louise Daugherty Tag new-gene-name tag was added to gene: C11orf70.
04 Feb 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.142	C11orf70	Louise Daugherty commented on gene: C11orf70: New HGNC approved gene symbol for C11orf70 is CFAP300
22 Jan 2019	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
22 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.142	RAG2	Louise Daugherty Publications for gene: RAG2 were set to 24996264
22 Jan 2019	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
22 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.141	RAG1	Louise Daugherty Publications for gene: RAG1 were set to 24996264
22 Jan 2019	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)
22 Jan 2019	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)
22 Jan 2019	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.
22 Jan 2019	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.
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	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
21 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.137	DNAH9	Louise Daugherty edited their review of gene: DNAH9: Changed rating: GREEN
21 Jan 2019	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
21 Jan 2019	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.
21 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.136	DNAH9	Louise Daugherty Publications for gene: DNAH9 were set to
20 Jan 2019	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
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.134	DNAH9	Anna de Burca Phenotypes for gene: DNAH9 were changed from to Primary c
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.133	DNAH9	Anna de Burca Classified gene: DNAH9 as Green List (high evidence)
20 Jan 2019	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.
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.133	DNAH9	Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence).
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.132	NME8	Anna de Burca Classified gene: NME8 as Red List (low evidence)
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.132	NME8	Anna de Burca Gene: nme8 has been classified as Red List (Low Evidence).
20 Jan 2019	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
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.131	STK36	Anna de Burca Classified gene: STK36 as Amber List (moderate evidence)
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.131	STK36	Anna de Burca Gene: stk36 has been classified as Amber List (Moderate Evidence).
20 Jan 2019	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
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.130	CENPF	Anna de Burca Classified gene: CENPF as Red List (low evidence)
20 Jan 2019	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.
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.130	CENPF	Anna de Burca Gene: cenpf has been classified as Red List (Low Evidence).
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.129	DNAH8	Anna de Burca Tag watchlist tag was added to gene: DNAH8.
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.129	DNAH8	Anna de Burca Classified gene: DNAH8 as Amber List (moderate evidence)
20 Jan 2019	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.
20 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.129	DNAH8	Anna de Burca Gene: dnah8 has been classified as Amber List (Moderate Evidence).
20 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.128		Louise Daugherty removed gene:RPGRIP1L from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.127		Louise Daugherty removed gene:RPGRIP1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.126		Louise Daugherty removed gene:RPE65 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.125		Louise Daugherty removed gene:RDH12 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.124		Louise Daugherty removed gene:RD3 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.123		Louise Daugherty removed gene:PKHD1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.122		Louise Daugherty removed gene:PKD2 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.121		Louise Daugherty removed gene:PCDH15 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.120		Louise Daugherty removed gene:SDCCAG8 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.119		Louise Daugherty removed gene:ZNF423 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.118		Louise Daugherty removed gene:ZIC3 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.117		Louise Daugherty removed gene:XPNPEP3 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.116		Louise Daugherty removed gene:WHRN from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.115		Louise Daugherty removed gene:WDR35 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.114		Louise Daugherty removed gene:WDR19 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.113		Louise Daugherty removed gene:WDPCP from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.112		Louise Daugherty removed gene:VHL from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.111		Louise Daugherty removed gene:USH2A from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.110		Louise Daugherty removed gene:USH1G from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.109		Louise Daugherty removed gene:USH1C from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.108		Louise Daugherty removed gene:UMOD from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.107		Louise Daugherty removed gene:TULP1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.106		Louise Daugherty removed gene:TTC8 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.105		Louise Daugherty removed gene:TTC21B from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.104		Louise Daugherty removed gene:TSC2 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.103		Louise Daugherty removed gene:TSC1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.102		Louise Daugherty removed gene:TRIM32 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.101		Louise Daugherty removed gene:TOPORS from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.100		Louise Daugherty removed gene:TMEM67 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.99		Louise Daugherty removed gene:TMEM237 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.98		Louise Daugherty removed gene:TMEM231 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.97		Louise Daugherty removed gene:TMEM216 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.96		Louise Daugherty removed gene:TMEM138 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.95		Louise Daugherty removed gene:TCTN2 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.94		Louise Daugherty removed gene:TCTN1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.93		Louise Daugherty removed gene:SPATA7 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.92		Louise Daugherty removed gene:NPHP4 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.91		Louise Daugherty removed gene:NPHP3 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.90		Louise Daugherty removed gene:NPHP1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.89		Louise Daugherty removed gene:NODAL from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.88		Louise Daugherty removed gene:NEK8 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.87		Louise Daugherty removed gene:NKX2-5 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.86		Louise Daugherty removed gene:NEK1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.85		Louise Daugherty removed gene:MYO7A from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.84		Louise Daugherty removed gene:MKS1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.83		Louise Daugherty removed gene:MKKS from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.82		Louise Daugherty removed gene:LZTFL1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.81		Louise Daugherty removed gene:LRAT from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.80		Louise Daugherty removed gene:LEFTY2 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.79		Louise Daugherty removed gene:LCA5 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.78		Louise Daugherty removed gene:KIF7 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.77		Louise Daugherty removed gene:KCNJ13 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.76		Louise Daugherty removed gene:IQCB1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.75		Louise Daugherty removed gene:INVS from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.74		Louise Daugherty removed gene:IMPDH1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.73		Louise Daugherty removed gene:IFT80 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.72		Louise Daugherty removed gene:HYLS1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.71		Louise Daugherty removed gene:IFT43 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.70		Louise Daugherty removed gene:GUCY2D from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.69		Louise Daugherty removed gene:GLIS2 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.68		Louise Daugherty removed gene:GDF1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.67		Louise Daugherty removed gene:FOXH1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.66		Louise Daugherty removed gene:EVC2 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.65		Louise Daugherty removed gene:EVC from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.64		Louise Daugherty removed gene:DYNC2H1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.63		Louise Daugherty removed gene:CRX from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.62		Louise Daugherty removed gene:CRELD1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.61		Louise Daugherty removed gene:CRB1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.60		Louise Daugherty removed gene:CLRN1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.59		Louise Daugherty removed gene:CEP55 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.58		Louise Daugherty removed gene:CEP41 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.57		Louise Daugherty removed gene:CEP290 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.56		Louise Daugherty removed gene:CEP164 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.55		Louise Daugherty removed gene:CDH23 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.54		Louise Daugherty removed gene:CCDC28B from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.53		Louise Daugherty removed gene:CC2D2A from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.52		Louise Daugherty removed gene:C5orf42 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.51		Louise Daugherty removed gene:C2orf71 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.50		Louise Daugherty removed gene:BBS9 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.49		Louise Daugherty removed gene:BBS7 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.48		Louise Daugherty removed gene:BBS4 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.47		Louise Daugherty removed gene:BBS5 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.46		Louise Daugherty removed gene:BBS12 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.45		Louise Daugherty removed gene:BBS2 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.44		Louise Daugherty removed gene:BBS1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.43		Louise Daugherty removed gene:BBS10 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.42		Louise Daugherty removed gene:B9D2 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.41		Louise Daugherty removed gene:ARL6 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.40		Louise Daugherty removed gene:B9D1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.39		Louise Daugherty removed gene:AIPL1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.38		Louise Daugherty removed gene:ARL13B from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.37		Louise Daugherty removed gene:ADGRV1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.36		Louise Daugherty removed gene:AHI1 from the panel
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.35		Louise Daugherty removed gene:ACVR2B from the panel
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.34	OFD1	Louise Daugherty Added phenotypes Ciliopathies for gene: OFD1
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.31	RAG2	Louise Daugherty Classified gene: RAG2 as Green List (high evidence)
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.31	RAG2	Louise Daugherty Gene: rag2 has been classified as Green List (High Evidence).
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.30	RAG2	Louise Daugherty Classified gene: RAG2 as Amber List (moderate evidence)
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.30	RAG2	Louise Daugherty Gene: rag2 has been classified as Amber List (Moderate Evidence).
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.29	RAG2	Louise Daugherty Classified gene: RAG2 as Green List (high evidence)
17 Jan 2019	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.
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.29	RAG2	Louise Daugherty Gene: rag2 has been classified as Green List (High Evidence).
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.28	RAG2	Louise Daugherty Publications for gene: RAG2 were set to
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.27	RAG1	Louise Daugherty Classified gene: RAG1 as Green List (high evidence)
17 Jan 2019	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.
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.27	RAG1	Louise Daugherty Gene: rag1 has been classified as Green List (High Evidence).
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.26	RAG1	Louise Daugherty Publications for gene: RAG1 were set to
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.25	PIK3R1	Louise Daugherty Classified gene: PIK3R1 as Green List (high evidence)
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.25	PIK3R1	Louise Daugherty Gene: pik3r1 has been classified as Green List (High Evidence).
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.24	PIK3R1	Louise Daugherty Phenotypes for gene: PIK3R1 were changed from to Immunodeficiency 36, 616005; Bronchiectasis
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.23	PIK3R1	Louise Daugherty Publications for gene: PIK3R1 were set to 29556229
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.22	PIK3R1	Louise Daugherty Publications for gene: PIK3R1 were set to PMID: 29556229
17 Jan 2019	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
17 Jan 2019	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.
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.20	NFKB2	Louise Daugherty Publications for gene: NFKB2 were set to
17 Jan 2019	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.
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.19	NFKB1	Louise Daugherty Publications for gene: NFKB1 were set to
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.18	NFKB2	Louise Daugherty Classified gene: NFKB2 as Green List (high evidence)
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.18	NFKB2	Louise Daugherty Gene: nfkb2 has been classified as Green List (High Evidence).
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.17	NFKB2	Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.17	NFKB2	Louise Daugherty Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10, 615577
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.13	NFKB1	Louise Daugherty Classified gene: NFKB1 as Green List (high evidence)
17 Jan 2019	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
17 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.13	NFKB1	Louise Daugherty Gene: nfkb1 has been classified as Green List (High Evidence).
17 Jan 2019	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)
17 Jan 2019	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)
17 Jan 2019	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)
17 Jan 2019	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)
17 Jan 2019	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)
16 Jan 2019	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
16 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.11	PIK3CD	Anna de Burca Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, 615513; Bronchiectasis
16 Jan 2019	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
16 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.9	PIK3CD	Louise Daugherty Publications for gene: PIK3CD were set to
16 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.8	PIK3CD	Anna de Burca Classified gene: PIK3CD as Green List (high evidence)
16 Jan 2019	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.
16 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.8	PIK3CD	Anna de Burca Gene: pik3cd has been classified as Green List (High Evidence).
16 Jan 2019	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
16 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.6	STK36	Louise Daugherty Publications for gene: STK36 were set to
16 Jan 2019	Respiratory ciliopathies including non-CF bronchiectasis v0.5	LRRC56	Louise Daugherty Publications for gene: LRRC56 were set to
11 Jan 2019	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
11 Jan 2019	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
11 Jan 2019	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
11 Jan 2019	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
11 Jan 2019	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
11 Jan 2019	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
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.3	SPAG17	Louise Daugherty Source Expert Review Red was added to SPAG17.
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.3	ORMDL3	Louise Daugherty Source Expert Review Red was added to ORMDL3.
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	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)
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.3	AGPAT2	Louise Daugherty Source Expert Review Red was added to AGPAT2.
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	ZMYND10	Louise Daugherty reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	TTC25	Louise Daugherty reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	TAPT1	Louise Daugherty reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	STK36	Louise Daugherty reviewed gene: STK36: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	SPAG17	Louise Daugherty reviewed gene: SPAG17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	SPAG1	Louise Daugherty reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	SCNN1G	Louise Daugherty reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	SCNN1B	Louise Daugherty reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	SCNN1A	Louise Daugherty reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	RSPH9	Louise Daugherty reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	RSPH4A	Louise Daugherty reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	RSPH3	Louise Daugherty reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	RSPH1	Louise Daugherty reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	RPGR	Louise Daugherty reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	PIK3CD	Louise Daugherty reviewed gene: PIK3CD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	PIH1D3	Louise Daugherty reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	ORMDL3	Louise Daugherty reviewed gene: ORMDL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	OFD1	Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	NME8	Louise Daugherty reviewed gene: NME8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	MCIDAS	Louise Daugherty reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	LRRC6	Louise Daugherty reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	LRRC56	Louise Daugherty reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	HYDIN	Louise Daugherty reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	GAS8	Louise Daugherty reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DRC1	Louise Daugherty reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAL1	Louise Daugherty reviewed gene: DNAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAJB13	Louise Daugherty reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAI2	Louise Daugherty reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAI1	Louise Daugherty reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAH9	Louise Daugherty reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAH8	Louise Daugherty reviewed gene: DNAH8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAH6	Louise Daugherty reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAH5	Louise Daugherty reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAH11	Louise Daugherty reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAH1	Louise Daugherty reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAAF5	Louise Daugherty reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAAF4	Louise Daugherty reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAAF3	Louise Daugherty reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAAF2	Louise Daugherty reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	DNAAF1	Louise Daugherty reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CFTR	Louise Daugherty reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CFAP54	Louise Daugherty reviewed gene: CFAP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CFAP46	Louise Daugherty reviewed gene: CFAP46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CENPF	Louise Daugherty reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CCNO	Louise Daugherty reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CCDC65	Louise Daugherty reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CCDC40	Louise Daugherty reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CCDC39	Louise Daugherty reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CCDC151	Louise Daugherty reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CCDC114	Louise Daugherty reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	CCDC103	Louise Daugherty reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	C21orf59	Louise Daugherty reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	C11orf70	Louise Daugherty reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	ARMC4	Louise Daugherty reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	Respiratory ciliopathies including non-CF bronchiectasis v0.2	AGPAT2	Louise Daugherty reviewed gene: AGPAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
05 Dec 2018	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
16 Nov 2018	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