PIP5K1C

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the PIP5K1C gene was identified in a female, age 8 with multiple dysmorphic features, global developmental delay, and epileptic encephalopathy (read full description).

Date of Report

Sep 09, 2021

Full Name

phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

Location

Chromosome 19 (19p13.3)

Function

This gene encodes a protein that is essential for creating lipids involved in many cellular processes (Ishihara et al., 1998).

Database Links

GeneCards: PIP5K1C

NCBI Gene: 23396

OMIM: 606102

UniProtKB/Swiss-Prot: O60331

Clinical Significance

A de novo change in this gene was identified in a UDN participant.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
PIP5K1C	Autosomal dominant	chr19:g.3653547T>C	NM_012398.2	c.662A>G	p.Tyr221Cys

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