CHM - Gene browser

CHM

CHM Rab escort protein

HCNC Approved Symbol: CHM (HGNC:1940)
Genomic Coordinates: 23:85,861,180 - 86,047,558 (Xq21.2)
Synonyms: REP-1, TCD, DXS540
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

20Patients

In total, 20 patients were diagnosed with a variant in the CHM gene.

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

020
Patient count

Retinitis pigmentosa: 8 (40.0%)
Patient Count: 8 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
8 (40.0%)
Retinal dystrophy: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Retinal disease: 2 (10.0%)
Patient Count: 2 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.0%)
Rod-cone dystrophy: 2 (10.0%)
Patient Count: 2 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.0%)
Decreased visual acuity: 2 (10.0%)
Patient Count: 2 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.0%)