PCDH15

protocadherin related 15
OMIM: 605514, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PCDH15 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1F, MIM# 602083
  • Deafness, autosomal recessive 23, MIM# 609533

Green PCDH15 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1F, MIM# 602083
  • Deafness, autosomal recessive 23, MIM# 609533

Red PCDH15 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Deafness, autosomal recessive 23, MIM#609533

Red PCDH15 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review Not set
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services

Green PCDH15 in Usher Syndrome


Level 2: Ophthalmological disorders
Version 1.5

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Usher syndrome Type 1F
    • Usher syndrome, type 1D/F digenic

    Green PCDH15 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 1F, 602083 (3)

    Green PCDH15 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Usher syndrome, type 1F, MIM# 602083
    • Deafness, autosomal recessive 23, MIM# 609533

    Green PCDH15 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Usher syndrome

    Green PCDH15 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 1F, 602083 (3)

    Green PCDH15 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533
    Tags
    • deafness

    Green PCDH15 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 1F, 602083 (3)