Deafness_Isolated
Gene: TPRN

TPRN (taperin)
EnsemblGeneIds (GRCh38): ENSG00000176058
EnsemblGeneIds (GRCh37): ENSG00000176058
OMIM: 613354, Gene2Phenotype
TPRN is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen, over 20 affected individuals reported, and gene-disease association is supported by multiple lines of functional data including expression studies, knockout mice models, biochemical function studies, and protein interaction.
Created: 3 Oct 2020, 4:10 a.m. | Last Modified: 3 Oct 2020, 4:10 a.m.

Panel Version: 0.577

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 79, MIM# 613307

Publications

Created: 3 Oct 2020, 4:10 a.m.
Last Modified: 3 Oct 2020, 4:10 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.577

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 79, MIM# 613307

OMIM

613354

Clinvar variants

Variants in TPRN

Penetrance

None

Publications

Panels with this gene