PDZD7

PDZ domain containing 7
OMIM: 612971, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red PDZD7 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green PDZD7 in Monogenic hearing loss


Level 2: Audiology
Version 5.64
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic
    • autosomal recessive nonsyndromic hearing loss
    Red PDZD7 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.116
    Latest signed off version: v8.0 (30 Apr 2025)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Red PDZD7 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
    • Retinal disease in Usher syndrome type IIA, modifier of, 276901
    • Eye Disorders