Skeletal dysplasia
Gene: PCDH15

PCDH15 (protocadherin related 15)
EnsemblGeneIds (GRCh38): ENSG00000150275
EnsemblGeneIds (GRCh37): ENSG00000150275
OMIM: 605514, Gene2Phenotype
PCDH15 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The association with Usher syndrome is well established, reported in multiple families, and supported by functional data. DEFINITIVE by ClinGen. The association with isolated deafness is less convincing, and many of the reported individuals have not been fully phenotyped to exclude retinal disease.
Created: 1 Oct 2020, 7:08 a.m. | Last Modified: 1 Oct 2020, 7:08 a.m.

Panel Version: 0.4717

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1F, MIM# 602083; Deafness, autosomal recessive 23, MIM# 609533

Publications

Created: 1 Oct 2020, 7:08 a.m.
Last Modified: 1 Oct 2020, 7:08 a.m.
Panel version: Imported from Mendeliome panel version 0.4717

Details

Sources

Expert Review Green
Emory Genetics Laboratory
Victorian Clinical Genetics Services

OMIM

605514

Clinvar variants

Variants in PCDH15

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCDH15 was added gene: PCDH15 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: PCDH15 was set to

Skeletal dysplasia Gene: PCDH15