Retinal disorders

Gene: PCDH15

Green List (high evidence)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 23; Usher syndrome, type 1D; F digenic; Usher syndrome, type 1F

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Several reports in literature. We have identified a heterozygous nonsense and heterozygous 3 exon deletion in this gene in a patient with Usher syndrome (widespread retinal degeneration and deafness).

Created: 1 Jun 2016, 10:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome Type 1F; non-syndromic deafness; Usher syndrome, type 1D/F digenic

Publications

• Several mutations reported on HGMD in patients with Usher syndrome Type 1 and also non-syndromic deafness.

Variants in this GENE are reported as part of current diagnostic practice

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:06 a.m.

Comment on list classification: Issue of digenic mode of inheritance for Usher syndrome.

Created: 22 Mar 2016, 1:43 p.m.