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TTC8

tetratricopeptide repeat domain 8

HCNC Approved Symbol
TTC8 (HGNC:20087)
Genomic Coordinates
14:88,824,153 - 88,881,079 (14q31.3)
Synonyms
BBS8, RP51
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the TTC8 gene.

Frequently observed phenotypes

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

Retinitis pigmentosa
 3 (75.0%)
Night blindness
 2 (50.0%)
Intellectual disability
 1 (25.0%)
Polydactyly of the hand
 1 (25.0%)
Congenital amaurosis
 1 (25.0%)
TTC8 - Gene browser | 3billion