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  3. PCDH15
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Monogenic hearing loss

Gene: PCDH15

Green List (high evidence)
PCDH15 (protocadherin related 15)
EnsemblGeneIds (GRCh38): ENSG00000150275
EnsemblGeneIds (GRCh37): ENSG00000150275
OMIM: 605514, Gene2Phenotype
PCDH15 is in 8 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:48 p.m.
Created: 1 Jun 2018, 2:48 p.m.

Panel version: 1.36

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Inheritance: Autosomal Recessive; Digenic Recessive
Created: 10 Apr 2018, 3:04 p.m.

Mode of inheritance
Other

Created: 10 Apr 2018, 3:04 p.m.

Panel version: 1.36

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Jun Shen (Harvard Medical School)

Green List (high evidence)

Inheritance:Autosomal recessive;Digenic recessive
Created: 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]

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:09 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Usher syndrome, type 1F, 602083
  • hearing loss
  • Deafness, autosomal recessive 23, 609533
  • Usher syndrome, type1D/F digenic, 601067
OMIM
605514
Clinvar variants
Variants in PCDH15
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PCDH15 were set to PMID:11138007; 11398101; 11487575; 12711741; 14570705; 15537665; 15660226; 17653769; 17706913; 17805295; 18719945; 19107147; 22981120; 23135401

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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