Deafness_Isolated
Gene: TRRAPEnsemblGeneIds (GRCh38): ENSG00000196367
EnsemblGeneIds (GRCh37): ENSG00000196367
OMIM: 603015, Gene2Phenotype
TRRAP is in 7 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
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: LiteratureCreated: 22 Jul 2022, 5:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Deafness, autosomal dominant 75 MIM#618778
Publications
- PMID: 31231791
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Deafness, autosomal dominant 75 MIM#618778
- OMIM
- 603015
- Clinvar variants
- Variants in TRRAP
- Penetrance
- None
- Publications
-
- PMID: 31231791
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trrap has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TRRAP were changed from ?Deafness, autosomal dominant 75 MIM#618778 to Deafness, autosomal dominant 75 MIM#618778
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)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