Retinal disorders
Gene: PCDH15
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
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
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.
Source NHS GMS was added to PCDH15. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for PCDH15 were set to Usher syndrome Type 1F; non-syndromic deafness; Usher syndrome, type 1D/F digenic; Eye Disorders
Publications for PCDH15 were set to Several mutations reported on HGMD in patients with Usher syndrome Type 1 and also non-syndromic deafness.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PCDH15 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
PCDH15 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
PCDH15 was created by ellenmcdonagh