Corneal abnormalities
Gene: PIKFYVE

PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing)
EnsemblGeneIds (GRCh38): ENSG00000115020
EnsemblGeneIds (GRCh37): ENSG00000115020
OMIM: 609414, Gene2Phenotype
PIKFYVE is in 3 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and more than 3 cases reported with different variants.
Created: 14 Feb 2017, 10:55 a.m.

Created: 14 Feb 2017, 10:55 a.m.

Panel version: 0.12

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal fleck dystrophy, AD, paediatric

Publications

15902656

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Corneal fleck dystrophy 121850
Corneal fleck dystrophy, AD, paediatric

OMIM

609414

Clinvar variants

Variants in PIKFYVE

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

14 Feb 2017, Gel status: 4