Deafness_Isolated
Gene: LRTOMT

LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000184154
EnsemblGeneIds (GRCh37): ENSG00000184154
OMIM: 612414, Gene2Phenotype
LRTOMT is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen. At least 5 unrelated families reported, supportive functional data including animal model.
Created: 30 Sep 2020, 10:22 a.m. | Last Modified: 30 Sep 2020, 10:22 a.m.

Panel Version: 0.496

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 63, MIM# 611451

Publications

Created: 30 Sep 2020, 10:22 a.m.
Last Modified: 30 Sep 2020, 10:22 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.496

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 63, MIM# 611451

OMIM

612414

Clinvar variants

Variants in LRTOMT

Penetrance

None

Publications

Panels with this gene