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| 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. |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | WFDC2 | Eleanor Williams commented on gene: WFDC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.4 | WFDC2 | Arina Puzriakova Publications for gene: WFDC2 were set to 38626355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 |
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| Respiratory ciliopathies including non-CF bronchiectasis v3.17 | WFDC2 | Achchuthan Shanmugasundram Classified gene: WFDC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.17 | WFDC2 | Achchuthan Shanmugasundram Gene: wfdc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.15 | WFDC2 | Achchuthan Shanmugasundram Publications for gene: WFDC2 were set to PMID: 38626355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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