Activity
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| 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. |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | TUBB4B | Eleanor Williams reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
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| 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| Respiratory ciliopathies including non-CF bronchiectasis v3.25 | TUBB4B | Achchuthan Shanmugasundram Classified gene: TUBB4B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.25 | TUBB4B | Achchuthan Shanmugasundram Gene: tubb4b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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