Glaucoma (developmental)
Gene: PDZD7
PDZD7 (PDZ domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000186862
EnsemblGeneIds (GRCh37): ENSG00000186862
OMIM: 612971, Gene2Phenotype
PDZD7 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000186862
EnsemblGeneIds (GRCh37): ENSG00000186862
OMIM: 612971, Gene2Phenotype
PDZD7 is in 4 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Usher syndrome, type IIC, GPR98/PDZD7 digenic; Retinal disease in Usher syndrome type IIA, modifier of; 605472; 276901
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 612971
- Clinvar variants
- Variants in PDZD7
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PDZD7 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory