HK1 - Gene browser

HK1

hexokinase 1

HCNC Approved Symbol: HK1 (HGNC:4922)
Genomic Coordinates: 10:69,270,000 - 69,401,882 (10q22.1)
Synonyms
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

16Patients

In total, 16 patients were diagnosed with a variant in the HK1 gene.

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

016
Patient count

Retinitis pigmentosa: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Developmental delay: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Global developmental delay: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Pattern dystrophy of the retina: 1 (6.3%)
Patient Count: 1 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.3%)
Bifid uvula: 1 (6.3%)
Patient Count: 1 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.3%)