MCOLN1 - Gene browser

MCOLN1

mucolipin TRP cation channel 1

HCNC Approved Symbol: MCOLN1 (HGNC:13356)
Genomic Coordinates: 19:7,522,624 - 7,534,009 (19p13.2)
Synonyms: TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the MCOLN1 gene.

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

04
Patient count

Delayed cns myelination: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Elevated serum cpk: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Global developmental delay: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Hypotonia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Bilateral basal ganglia lesions: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)