FANCL

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

FA Complementation Group L

Location

Chromosome 2 (2p16.1)

Function

FANCL gene encodes for a ubiquitin ligase within the Fanconi anemia complement group (Meetei et al. 2003)

Database Links

GeneCards: FANCL

NCBI Gene: 55120

OMIM: 608111

UniProtKB/Swiss-Prot: Q9NW38

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	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
FANCL	Autosomal Recessive	chr2:g.58468412G>A	NM_001114636.1	c.37C>T	p.Pro13Ser

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