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TRPM6

transient receptor potential cation channel subfamily M member 6

HCNC Approved Symbol
TRPM6 (HGNC:17995)
Genomic Coordinates
9:74,722,495 - 74,887,921 (9q21.13)
Synonyms
CHAK2, FLJ22628, HOMG, HSH
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

17Patients

In total, 17 patients were diagnosed with a variant in the TRPM6 gene.

Frequently observed phenotypes

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

Hypomagnesemia
 12 (70.6%)
Seizures
 8 (47.1%)
Hypocalcemia
 6 (35.3%)
Hypoparathyroidism
 3 (17.6%)
Intellectual disability
 
1 (5.9%)
TRPM6 - Gene browser | 3billion