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)
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Function

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

Database Links

GeneCards: GC19M003631

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