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 1.8

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green PDZD7 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.37
Signed off v.2.5 on 13 Feb 2020

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 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.14
Signed off v.2.7 on 25 Feb 2020

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Eye Disorders

Red PDZD7 in Structural eye disease


Version 1.9
Signed off v.1.3 on 4 Mar 2020

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