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  3. PIKFYVE
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Hereditary neuropathy or pain disorder

Gene: PIKFYVE

No list
PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing)
EnsemblGeneIds (GRCh38): ENSG00000115020
EnsemblGeneIds (GRCh37): ENSG00000115020
OMIM: 609414, Gene2Phenotype
PIKFYVE is in 4 panels

1 review

Alexander Rossor (UCL Institute of Neurology)

I don't know

Recessive variants n 3 families with similar phenotype. NCS /EMG only done in one family and showed aneuopathy in two siblings
Sources: Other
Created: 1 Nov 2026, 4:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay; axonal neuropathy; spasticity; epilepsy; nystagmus; sensorineural haring loss; hypomyelination; thin corpus callosum

Publications

Created: 1 Nov 2026, 4:39 p.m.

Panel version: 8.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Developmental delay
  • axonal neuropathy
  • spasticity
  • epilepsy
  • nystagmus
  • sensorineural haring loss
  • hypomyelination
  • thin corpus callosum
OMIM
609414
Clinvar variants
Variants in PIKFYVE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2026, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: PIKFYVE was added gene: PIKFYVE was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: PIKFYVE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIKFYVE were set to 42872583 Phenotypes for gene: PIKFYVE were set to Developmental delay; axonal neuropathy; spasticity; epilepsy; nystagmus; sensorineural haring loss; hypomyelination; thin corpus callosum Review for gene: PIKFYVE was set to AMBER