TWNK - Gene browser

TWNK

twinkle mtDNA helicase

HCNC Approved Symbol: TWNK (HGNC:1160)
Genomic Coordinates: 10:100,987,543 - 100,994,403 (10q24.31)
Synonyms: PEO, PEO1, TWINKLE, FLJ21832, TWINL, IOSCA, C10orf2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

9Patients

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

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

09
Patient count

Ptosis: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Dysarthria: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Ataxia: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Global developmental delay: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Hypotonia: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)