Activity
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| 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. |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | DAW1 | Eleanor Williams reviewed gene: DAW1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.43 | DAW1 | Achchuthan Shanmugasundram Classified gene: DAW1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.43 | DAW1 | Achchuthan Shanmugasundram Gene: daw1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| 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. |
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| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.19 | DAW1 | Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: DAW1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.19 | DAW1 | Achchuthan Shanmugasundram Tag Q2_25_ demote_red tag was added to gene: DAW1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.23 | DAW1 | Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: DAW1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
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| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.11 | DAW1 | Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: DAW1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.1 | DAW1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.1 | DAW1 | Achchuthan Shanmugasundram commented on gene: DAW1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.61 | DAW1 | Sarah Leigh changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review according to the recommendations from Helen Brittain (Genomics England, Clinical Fellow). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.61 | DAW1 | Sarah Leigh Classified gene: DAW1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.61 | DAW1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.61 | DAW1 | Sarah Leigh Gene: daw1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.60 | DAW1 | Sarah Leigh Classified gene: DAW1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.60 | DAW1 | Sarah Leigh Gene: daw1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.59 | DAW1 |
Sarah Leigh changed review comment from: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. Sources: Literature; to: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. Supportive functional studies and a mouse model were also reported in PMID: 36074124. Sources: Literature |
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| 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 |
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