Glaucoma (developmental)
Gene: PCDH15EnsemblGeneIds (GRCh38): ENSG00000150275
EnsemblGeneIds (GRCh37): ENSG00000150275
OMIM: 605514, Gene2Phenotype
PCDH15 is in 8 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 1D/F digenic; Usher syndrome, type 1F; Deafness, autosomal recessive 23; 601067; 602083; 609533
Mode of pathogenicity
Other - please provide details in the comments
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 1D/F digenic, 601067; Usher syndrome, type 1F, 602083; Deafness, autosomal recessive 23, 609533
Mode of pathogenicity
Other - please provide details in the comments
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 605514
- Clinvar variants
- Variants in PCDH15
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
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.
Added New Source
Eik Haraldsdottir (Genomics England)PCDH15 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory