PIKFYVE

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PIKFYVE in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal fleck dystrophy, MIM# 121850

Green PIKFYVE in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal fleck dystrophy, MIM# 121850