PCDH15

protocadherin related 15
OMIM: 605514, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green PCDH15 in ClinGen Gene Validity Curations


Version 0.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Usher syndrome type 1F
  • OrphaNet ORPHA231169
  • OMIM602083
Red PCDH15 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red PCDH15 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review Not set
Sources
  • Emory Genetics Laboratory
Red PCDH15 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red PCDH15 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Red PCDH15 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Green PCDH15 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review 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
    Green PCDH15 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Usher syndrome Type 1F
    • non-syndromic deafness
    • Usher syndrome, type 1D/F digenic
    • Eye Disorders
    Red PCDH15 in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Deafness, autosomal recessive 23, 609533
    • Usher syndrome, type 1F, 602083
    • Usher syndrome, type 1D/F digenic, 601067
    • Eye Disorders
    Red PCDH15 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies
    Green PCDH15 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 23, 609533
    • Usher syndrome, type 1F, 602083
    • Usher syndrome, type 1D/F digenic, 601067