Monogenic hearing loss
Gene: TRIOBPEnsemblGeneIds (GRCh38): ENSG00000100106
EnsemblGeneIds (GRCh37): ENSG00000100106
OMIM: 609761, Gene2Phenotype
TRIOBP is in 1 panel
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:36 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 5:27 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- hearing loss
- Deafness, autosomal recessive 28, 609823
- OMIM
- 609761
- Clinvar variants
- Variants in TRIOBP
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TRIOBP were set to PMID:11148140; 11258795; 16385457; 16385458; 20510926
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for TRIOBP was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TRIOBP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)TRIOBP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)TRIOBP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)TRIOBP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert