Deafness_IsolatedAndComplex
Gene: TBL1Y
TBL1Y (transducin beta like 1 Y-linked)
EnsemblGeneIds (GRCh38): ENSG00000092377
EnsemblGeneIds (GRCh37): ENSG00000092377
OMIM: 400033, Gene2Phenotype
TBL1Y is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000092377
EnsemblGeneIds (GRCh37): ENSG00000092377
OMIM: 400033, Gene2Phenotype
TBL1Y is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Y-linked inheritance pattern. Complete segregation of a missense variant demonstrated in 9 affected males in a 5-generation pedigree. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: LiteratureCreated: 24 Apr 2020, 7:08 a.m.
Mode of inheritance
Other
Phenotypes
Deafness, Y-linked 2, MIM# 400047
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Deafness, Y-linked 2, MIM# 400047
- OMIM
- 400033
- Clinvar variants
- Variants in TBL1Y
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
9 Oct 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TBL1Y were changed from Hearing loss to Deafness, Y-linked 2, MIM# 400047
24 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbl1y has been classified as Red List (Low Evidence).
24 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TBL1Y was added gene: TBL1Y was added to Deafness. Sources: Literature Mode of inheritance for gene: TBL1Y was set to Other Publications for gene: TBL1Y were set to 30341416 Phenotypes for gene: TBL1Y were set to Hearing loss Review for gene: TBL1Y was set to RED