Monogenic hearing loss
Gene: LHFPL5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 3:09 p.m.
Comment on list classification: Probable DD gene for deafness autosomal recessive type 67.Created: 17 Feb 2016, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#610265:Deafness, autosomal recessive 67
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:42 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for LHFPL5 were set to Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 67, 610265
Publications for LHFPL5 were set to PMID:15905332; 16459341; 16752389
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene LHFPL5 was changed to BIALLELIC, autosomal or pseudoautosomal
LHFPL5 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 LHFPL5 was changed to BIALLELIC, autosomal or pseudoautosomal
LHFPL5 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 LHFPL5 was changed to BIALLELIC, autosomal or pseudoautosomal
LHFPL5 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 LHFPL5 was changed to BIALLELIC, autosomal or pseudoautosomal
LHFPL5 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
LHFPL5 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