PIKFYVE

phosphoinositide kinase, FYVE-type zinc finger containing
OMIM: 609414, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PIKFYVE in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

review 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
Green PIKFYVE in Corneal dystrophy


Level 2: Ophthalmology
Version 4.7
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal fleck dystrophy 121850
Red PIKFYVE in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal fleck dystrophy, 121850