IFT172

IFT172

intraflagellar transport 172

HCNC Approved Symbol: IFT172 (HGNC:30391)
Genomic Coordinates: 2:27,444,377 - 27,489,743 (2p23.3)
Synonyms: SLB, wim, osm-1, NPHP17, BBS20
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the IFT172 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Decreased visual acuity: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Night blindness: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30