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Deafness_IsolatedAndComplex

Gene: TBL1Y

Red List (low evidence)

TBL1Y (transducin beta like 1 Y-linked)
EnsemblGeneIds (GRCh38): ENSG00000092377
EnsemblGeneIds (GRCh37): ENSG00000092377
OMIM: 400033, Gene2Phenotype
TBL1Y is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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: Literature
Created: 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