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| Deafness_Isolated v1.34 | TRRAP | Zornitza Stark Marked gene: TRRAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.34 | TRRAP | Zornitza Stark Gene: trrap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.34 | TRRAP | Zornitza Stark Phenotypes for gene: TRRAP were changed from ?Deafness, autosomal dominant 75 MIM#618778 to Deafness, autosomal dominant 75 MIM#618778 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.33 | TRRAP |
Elena Savva gene: TRRAP was added gene: TRRAP was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRRAP were set to PMID: 31231791 Phenotypes for gene: TRRAP were set to ?Deafness, autosomal dominant 75 MIM#618778 Review for gene: TRRAP was set to RED Added comment: PMID: 31231791: missense variant, no functional performed - 4 members of a 3-generation Chinese family with adult-onset autosomal dominant nonsyndromic moderate to severe deafness, but 8 hets in gnomAD - Knockdown or knockout of TRRAP resulted in significant defects in the inner ear of zebrafish Sources: Literature |
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