PROM1 - Gene browser

PROM1

prominin 1

HCNC Approved Symbol: PROM1 (HGNC:9454)
Genomic Coordinates: 4:15,968,228 - 16,084,023 (4p15.32)
Synonyms: AC133, CD133, RP41, CORD12, PROML1, MCDR2, STGD4
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

32Patients

In total, 32 patients were diagnosed with a variant in the PROM1 gene.

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

032
Patient count

Retinitis pigmentosa: 7 (21.9%)
Patient Count: 7 (21.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (21.9%)
Decreased visual acuity: 5 (15.6%)
Patient Count: 5 (15.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (15.6%)
Night blindness: 5 (15.6%)
Patient Count: 5 (15.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (15.6%)
Retinal disease: 4 (12.5%)
Patient Count: 4 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.5%)
Nyctalopia: 4 (12.5%)
Patient Count: 4 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.5%)