| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.340 | TRIM71 | Zornitza Stark Marked gene: TRIM71 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.340 | TRIM71 | Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.340 | TRIM71 | Zornitza Stark Classified gene: TRIM71 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.340 | TRIM71 | Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.339 | TRIM71 |
Zornitza Stark gene: TRIM71 was added gene: TRIM71 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM71 were set to 40892928 Phenotypes for gene: TRIM71 were set to Congenital hydrocephalus 4 (MIM#618667) Review for gene: TRIM71 was set to GREEN Added comment: Reports 3 individuals from 3 unrelated families with heterozygous missense TRIM71 variants (p.Q334R, p.R608H, p.R796H) presenting with childhood‑onset syndromic hearing loss, often accompanied by congenital hydrocephalus, renal cysts, facial dysmorphism and other developmental anomalies. Two individuals (p.Q334R and p.R608H) have detailed clinical work‑up (sensorineural or mixed severe loss, inner ear malformations) and functional assays demonstrate that p.Q334R mis‑localises TRIM71 to P‑bodies and p.R608H disrupts RNA binding. Mouse models with loss‑of‑function or the human HL‑associated missense allele recapitulate severe hearing loss, confirming the pathogenic mechanism as loss‑of‑function of TRIM71. Sources: Literature |
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