Deafness_Isolated
Gene: TRIOBPEnsemblGeneIds (GRCh38): ENSG00000100106
EnsemblGeneIds (GRCh37): ENSG00000100106
OMIM: 609761, Gene2Phenotype
TRIOBP is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
DEFINITVE by ClinGen, multiple families and supportive functional data.Created: 3 Oct 2020, 2:46 a.m. | Last Modified: 3 Oct 2020, 2:46 a.m.
Panel Version: 0.568
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 28, MIM# 609823
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal recessive 28, MIM# 609823
- OMIM
- 609761
- Clinvar variants
- Variants in TRIOBP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: triobp has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TRIOBP were changed from to Deafness, autosomal recessive 28, MIM# 609823
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TRIOBP were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TRIOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TRIOBP was added gene: TRIOBP was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRIOBP was set to Unknown