RP1L1 - Gene browser

RP1L1

RP1 like 1

HCNC Approved Symbol: RP1L1 (HGNC:15946)
Genomic Coordinates: 8:10,606,349 - 10,655,143 (8p23.1)
Synonyms: DCDC4B
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

27Patients

In total, 27 patients were diagnosed with a variant in the RP1L1 gene.

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

027
Patient count

Retinitis pigmentosa: 8 (29.6%)
Patient Count: 8 (29.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (29.6%)
Decreased visual acuity: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Occult macular dystrophy: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Night blindness: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)
Visual impairment: 2 (7.4%)
Patient Count: 2 (7.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (7.4%)