Monogenic hearing loss
Gene: PCDH15New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:48 p.m.
Inheritance: Autosomal Recessive; Digenic RecessiveCreated: 10 Apr 2018, 3:04 p.m.
Mode of inheritance
Other
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Inheritance:Autosomal recessive;Digenic recessiveCreated: 9 Feb 2016, 10:06 a.m.
Mode of inheritance
Other
Phenotypes
#601067:Usher syndrome, type 1D/F digenic[Hearing loss, congenital profoundVestibular dysfunction; Retinitis pigmentosa]; #602083:Usher syndrome, type 1F[Hearing loss, sensorineural, profound congenital; Retinitis pigmentosa; Delayed motor milestones]; #609533:Deafness, autosomal recessive 23[Deafness, neurosensorySevere to profound deafness; Normal vision]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:09 p.m.
Phenotypes for PCDH15 were set to Nonsyndromic Hearing Loss, Recessive; Usher syndrome, type 1F, 602083; hearing loss; Deafness, autosomal recessive 23, 609533; Usher syndrome, type1D/F digenic, 601067
Publications for PCDH15 were set to PMID:11138007; 11398101; 11487575; 12711741; 14570705; 15537665; 15660226; 17653769; 17706913; 17805295; 18719945; 19107147; 22981120; 23135401
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal
PCDH15 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal
PCDH15 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal
PCDH15 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal
PCDH15 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert
PCDH15 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert