Deafness_Isolated
Gene: TMIE

TMIE (transmembrane inner ear)
EnsemblGeneIds (GRCh38): ENSG00000181585
EnsemblGeneIds (GRCh37): ENSG00000181585
OMIM: 607237, Gene2Phenotype
TMIE is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 individuals reported, gene-disease association is supported by expression studies, knockout mouse models, biochemical function studies, protein interaction studies and a rescue in a mouse model. DEFINITIVE by ClinGen.
Created: 3 Oct 2020, 2:52 a.m. | Last Modified: 3 Oct 2020, 2:52 a.m.

Panel Version: 0.571

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 6, MIM# 600971

Publications

Created: 3 Oct 2020, 2:52 a.m.
Last Modified: 3 Oct 2020, 2:52 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.571

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 6, MIM# 600971

OMIM

607237

Clinvar variants

Variants in TMIE

Penetrance

None

Publications

Panels with this gene