PCDH15

protocadherin related 15
OMIM: 605514, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green PCDH15 in Mendeliome


Version 2.0

1 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 2.0

1 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 2.0

1 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 1.0

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

Green PCDH15 in Usher Syndrome


Level 2: Ophthalmological disorders
Version 2.0

1 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 1.0

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

Green PCDH15 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Green PCDH15 in Prepair 1000+


Level 2: Screening
Version 3.0

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

Green PCDH15 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 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 3.0

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