| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Auditory Neuropathy v0.22 | TRPV4 | Bryony Thompson Marked gene: TRPV4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.22 | TRPV4 | Bryony Thompson Gene: trpv4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.22 | TRPV4 | Bryony Thompson Classified gene: TRPV4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.22 | TRPV4 | Bryony Thompson Gene: trpv4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.21 | TRPV4 |
Bryony Thompson gene: TRPV4 was added gene: TRPV4 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV4 were set to 31393079; 24789864; 22675077; 31468327; 20460441; 15925108 Phenotypes for gene: TRPV4 were set to Auditory neuropathy spectrum disorder; Peripheral neuropathy; Hearing loss Review for gene: TRPV4 was set to AMBER Added comment: A single case with a missense (Arg232Cys) reported with auditory neuropathy as a feature of the condition (PMID: 31393079). A knockout mouse model (Trpv4 -/-) demonstrated larger auditory brain response shifts to wildtype, and delayed-onset hearing loss (PMID: 15925108). Hearing loss has been reported as a feature of the phenotype in multiple cases, but unknown if due to auditory neuropathy. Hearing loss was reported in 4/17 cases with childhood-onset motor neuropathy (PMID: 24789864). A single individual with hearing loss as a feature of the condition has been reported in two unrelated families segregating a missense variant (R186Q, R316C) with CMT2C (PMID: 22675077, 31468327). Another missense (R269H), segregated with hearing loss and SMA in 4 affected individuals in a family (PMID: 20460441). Sources: Literature |
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