Corneal dystrophies

Gene: PIKFYVE

Green List (high evidence)

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

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal fleck dystrophy 121850
OMIM
609414
Clinvar variants
Variants in PIKFYVE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PIKFYVE was added gene: PIKFYVE was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: PIKFYVE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIKFYVE were set to 26396486; 15902656; 23288988 Phenotypes for gene: PIKFYVE were set to Corneal fleck dystrophy 121850