PIKFYVE:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PIKFYVE in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.13

1 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 1.3802

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

Green PIKFYVE in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 2.0

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