ICOS

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 this gene was identified in a UDN participant with a weakened immune system, mitochondrial deficiency, delayed stomach emptying, and multiple congenital anomalies. Research is underway to see if this change is causing symptoms in this participant (read full description).

Date of Report

Apr 12, 2022

Full Name

Inducible. T-Cell Costimulator

Location
Chromosome 2 (2q33.2)
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Function

ICOS encodes a cell surface T-cell receptor (Hutloff et al., 1999).

Database Links

GeneCards: GC02P203937

NCBI Gene: 29851

OMIM: 604558

UniProtKB/Swiss-Prot: Q9Y6W8

Clinical Significance

A 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 ICOS
Inheritance Pattern Autosomal Recessive
Position (hg19) chr2:g.204807979T>C
Transcript NM_012092.4
DNA Change c.58+6384T>C
Protein Change N/A
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