Monogenic hearing loss
Gene: LOXHD1New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 3:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613079:Deafness, autosomal recessive 77[Hearing loss, sensorineural, bilateral (milder hearing loss at low frequencies)]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:43 p.m.
Publications for gene: LOXHD1 were set to PMID:16936105; 19732867; 21465660; 22341973
Phenotypes for gene: LOXHD1 were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 77, 613079; hearing loss to Deafness, autosomal recessive 77, OMIM:613079
Publications for LOXHD1 were set to PMID:16936105; 19732867; 21465660; 22341973
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene LOXHD1 was changed to BIALLELIC, autosomal or pseudoautosomal
LOXHD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene LOXHD1 was changed to BIALLELIC, autosomal or pseudoautosomal
LOXHD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene LOXHD1 was changed to BIALLELIC, autosomal or pseudoautosomal
LOXHD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene LOXHD1 was changed to BIALLELIC, autosomal or pseudoautosomal
LOXHD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
LOXHD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert