Activity
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| Monogenic hearing loss v5.49 | TUBB4B | Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: TUBB4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.49 | TUBB4B | Ida Ertmanska reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.48 | TUBB4B |
Ida Ertmanska Source Expert Review Green was added to TUBB4B. Source NHS GMS was added to TUBB4B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v4.66 | TUBB4B | Achchuthan Shanmugasundram Classified gene: TUBB4B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.66 | TUBB4B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least six unrelated patients reported with hearing loss and heterozygous TUBB4B variants. Hence, this gene can be promoted top green rating on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.66 | TUBB4B | Achchuthan Shanmugasundram Gene: tubb4b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.65 | TUBB4B |
Achchuthan Shanmugasundram gene: TUBB4B was added gene: TUBB4B was added to Monogenic hearing loss. 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 29198720; 38662826; 39115449 Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness, OMIM:617879; sensorineural hearing loss disorder, MONDO:0020678 Review for gene: TUBB4B was set to GREEN Added comment: PMID:29198720 reported three patients of a family with early-onset retinal degeneration and hearing loss and they were identified with a heterozygous missense variant in TUBB4B gene (p.Arg391His). 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 (p.Pro259Leu). This patient presented with airways disease and hearing loss. This gene has been associated with Leber congenital amaurosis with early-onset deafness phenotype in OMIM (MIM #617879), but not yet in Gene2Phenotype. Sources: Literature |
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