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| Mendeliome v2.0 | TRIM71 | Gene migrated from ENSG00000206557 to ENSG00000206557 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4617 | TRIM71 | Zornitza Stark Publications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4616 | TRIM71 |
Zornitza Stark changed review comment from: 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.; to: 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. Likely phenotype expansion. |
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| Mendeliome v1.4616 | TRIM71 | Zornitza Stark reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: None; Publications: 40892928; Phenotypes: Congenital hydrocephalus 4 (MIM#618667); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3137 | TRIM71 | Elena Savva Phenotypes for gene: TRIM71 were changed from Congenital hydrocephalus 4 (MIM#618667) to Congenital hydrocephalus 4 (MIM#618667) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3137 | TRIM71 | Elena Savva Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1 618667 to Congenital hydrocephalus 4 (MIM#618667) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2962 | TRIM71 | Seb Lunke Mode of pathogenicity for gene: TRIM71 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2961 | TRIM71 | Seb Lunke Marked gene: TRIM71 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2961 | TRIM71 | Seb Lunke Gene: trim71 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2961 | TRIM71 | Seb Lunke Classified gene: TRIM71 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2961 | TRIM71 | Seb Lunke Gene: trim71 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2943 | TRIM71 | Elena Savva reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29983323, 32168371, 30975633; Phenotypes: Hydrocephalus, congenital communicating, 1 618667; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2943 | TRIM71 | Elena Savva Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2943 | TRIM71 |
Elena Savva gene: TRIM71 was added gene: TRIM71 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633 Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 618667 Mode of pathogenicity for gene: TRIM71 was set to Other Added comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child. PMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder PMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism. Sources: Literature |
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