PRPF6 - Gene browser

PRPF6

pre-mRNA processing factor 6

HCNC Approved Symbol: PRPF6 (HGNC:15860)
Genomic Coordinates: 20:63,981,132 - 64,033,100 (20q13.33)
Synonyms: TOM, bB152O15.1, ANT-1, U5-102K, Prp6, hPrp6, SNRNP102, RP60, C20orf14
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the PRPF6 gene.

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

03
Patient count

Decreased visual acuity: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Decreased visual acuity, progressive: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Night blindness: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Retinitis pigmentosa: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Cone-rod dystrophy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)