CHL1

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 maternally inherited heterozygous in the CHL1 gene was identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well-treated and controlled (read full description).

Date of Report

Feb 23, 2023

Full Name

Cell Adhesion Molecule L1 like

Location

Chromosome 3 (3p26.3)

Function

CHL1 gene is responsible for creating a molecule that regulates uncoating of clathrin-coated synaptic vesicles (Leshchyns’ka et al., 2006).

Database Links

GeneCards: CHL1

NCBI Gene: 10752

OMIM: 607416

UniProtKB/Swiss-Prot: O00533

Clinical Significance

A maternally inherited heterozygous change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
CHL1	Unknown	chr3:g.382524G>A	NM_006614.4	c.433G>A	p.Glu145Lys

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