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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.
View More Disease Info
Disease NameOMIM IDInheritance
?Cataract 50 with or without glaucoma
620253AD
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
620224AD

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%)