PIKFYVE

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

4 panels

Panel Reviews Mode of inheritance Details
4 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 4.12
Latest signed off version: v4.11 (12 Aug 2026)

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 5.10
Latest signed off version: v5.7 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal fleck dystrophy, 121850
No list PIKFYVE in Hereditary neuropathy or pain disorder


Level 2: Neurology
Version 8.38
Latest signed off version: v8.30 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Developmental delay
  • axonal neuropathy
  • spasticity
  • epilepsy
  • nystagmus
  • sensorineural haring loss
  • hypomyelination
  • thin corpus callosum