Corneal abnormalities
Gene: PIKFYVEComment on list classification: Expert review green, and more than 3 cases reported with different variants.Created: 14 Feb 2017, 10:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal fleck dystrophy, AD, paediatric
Publications
Variants in this GENE are reported as part of current diagnostic practice
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PIKFYVE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for PIKFYVE were set to 15902656; 23288988;26396486
Publications for PIKFYVE were set to 15902656;23288988
Phenotypes for PIKFYVE were set to Corneal fleck dystrophy 121850;Corneal fleck dystrophy, AD, paediatric
PIKFYVE was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel
PIKFYVE was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen
PIKFYVE was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services