Structural eye disease
Gene: PCDH15
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
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
Source NHS GMS was added to PCDH15. Mode of inheritance for gene PCDH15 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067; Deafness, autosomal recessive 23, 609533 for gene: PCDH15
gene: PCDH15 was added gene: PCDH15 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PCDH15 was set to Phenotypes for gene: PCDH15 were set to Eye Disorders