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IFT140

intraflagellar transport 140

HCNC Approved Symbol
IFT140 (HGNC:29077)
Genomic Coordinates
16:1,510,427 - 1,612,072 (16p13.3)
Synonyms
gs114, KIAA0590, WDTC2
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the IFT140 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Pericentral retinitis pigmentosa
 2 (22.2%)
Retinitis pigmentosa
 2 (22.2%)
Decreased visual acuity
 
1 (11.1%)
Night blindness
 
1 (11.1%)
Headache
 
1 (11.1%)
IFT140 - Gene browser | 3billion