SPATA7 - Gene browser

SPATA7

spermatogenesis associated 7

HCNC Approved Symbol: SPATA7 (HGNC:20423)
Genomic Coordinates: 14:88,385,657 - 88,470,350 (14q31.3)
Synonyms: HSD3, LCA3
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the SPATA7 gene.

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

014
Patient count

Decreased visual acuity: 6 (42.9%)
Patient Count: 6 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
6 (42.9%)
Night blindness: 6 (42.9%)
Patient Count: 6 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
6 (42.9%)
Retinitis pigmentosa: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Retinal dystrophy: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Visual impairment: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)