PDZD7

Red PDZD7 in Glaucoma (developmental)

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

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Green PDZD7 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:

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 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Eye Disorders

Red PDZD7 in Structural eye disease

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

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