PDZD7

PDZ domain containing 7
OMIM: 612971, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PDZD7 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 57, MIM# 618003
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472

Green PDZD7 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
  • Deafness, autosomal recessive 57, MIM# 618003

Amber PDZD7 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 Amber
    • Royal Melbourne Hospital
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472

    Green PDZD7 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
    • Deafness, autosomal recessive 57, MIM# 618003

    Green PDZD7 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 PDZD7 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Deafness, autosomal recessive 57, MIM# 618003
    • Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472
    Tags
    • deafness