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ClinGen Gene Validity Curations

Gene: LRTOMT

Green List (high evidence)
LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000184154
EnsemblGeneIds (GRCh37): ENSG00000184154
OMIM: 612414, Gene2Phenotype
LRTOMT is in 1 panel

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 09/30/2016) and DEFINITIVE by Expert curation ClinGen Hearing Loss Working Group (dated 02/15/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/5662.
Created: 20 Jun 2017, 3:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 23 Jun 2017, 11:51 a.m.

Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Sensorineural hearing loss
  • OrphaNet: ORPHA90636
  • OMIM:611451
OMIM
612414
Clinvar variants
Variants in LRTOMT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LRTOMT was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

20 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LRTOMT was added to ClinGen Gene Validity Curationspanel. Sources: Other

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LRTOMT was created by ellenmcdonagh