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TRPM3

transient receptor potential cation channel subfamily M member 3

HCNC Approved Symbol
TRPM3 (HGNC:17992)
Genomic Coordinates
9:70,529,060 - 71,446,971 (9q21.12-q21.13)
Synonyms
KIAA1616, LTRPC3, GON-2
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the TRPM3 gene.

Frequently observed phenotypes

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

Global developmental delay
 3 (42.9%)
Hypertelorism
 3 (42.9%)
Intellectual disability
 2 (28.6%)
Generalized hypotonia
 2 (28.6%)
Hypotonia
 2 (28.6%)
TRPM3 - Gene browser | 3billion