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| Monogenic hearing loss v2.63 | TOP2B | Zornitza Stark edited their review of gene: TOP2B: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.57 | TOP2B | Eleanor Williams Phenotypes for gene: TOP2B were changed from Deafness, autosomal dominant to Deafness, autosomal dominant; nonsyndromic hearing loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.56 | TOP2B | Eleanor Williams Classified gene: TOP2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.56 | TOP2B | Eleanor Williams Added comment: Comment on list classification: Changing the rating from grey to amber. 1 familial case plus 3 sporadic cases reported. Supportive animal model. All reported in one publication so will wait until there is an additional supporting familial case before rating green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.56 | TOP2B | Eleanor Williams Gene: top2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.55 | TOP2B |
Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM. PMID: 31198993 - Xia et al 2019 - Whole-exome sequencing was performed on seven affected and six unaffected members in a large Chinese family with autosomal-dominant nonsyndromic hearing loss. A variant in TOP2B (c.G4837C:p.D1613H) segregated with hearing loss in this family. Two variants other of TOP2B were detected in 66 sporadic patients with hearing loss. In zebrafish, top2b knockdown led to defects in the inner ears and caused downregulation of akt which resulted in inactivation of PI3K-Akt signalling.; to: Not associated with a phenotype in OMIM. PMID: 31198993 - Xia et al 2019 - Whole-exome sequencing was performed on seven affected and six unaffected members in a large Chinese family with autosomal-dominant nonsyndromic hearing loss. A variant in TOP2B (c.G4837C:p.D1613H) segregated with hearing loss in this family. Two other variants of TOP2B were detected in 66 sporadic patients with hearing loss (p.L721F and p. K1435del, plus another case with p.D1613H). In zebrafish, top2b knockdown led to defects in the inner ears and caused downregulation of akt which resulted in inactivation of PI3K-Akt signalling. |
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| Monogenic hearing loss v2.55 | TOP2B | Eleanor Williams reviewed gene: TOP2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 31198993; Phenotypes: nonsyndromic hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | TOP2B |
Zornitza Stark gene: TOP2B was added gene: TOP2B was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: TOP2B were set to 31198993 Phenotypes for gene: TOP2B were set to Deafness, autosomal dominant Added comment: One multigenerational family where variant in this gene segregated with deafness; two additional variants identified in a cohort; supportive animal model data. Sources: Expert list |
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