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  3. PCDH15
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Structural eye disease

Gene: PCDH15

Red List (low evidence)
PCDH15 (protocadherin related 15)
EnsemblGeneIds (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)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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 disease
Created: 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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 23, 609533
  • Usher syndrome, type 1F, 602083
  • Usher syndrome, type 1D/F digenic, 601067
  • Eye Disorders
OMIM
605514
Clinvar variants
Variants in PCDH15
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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