3billion
back to listBack to List

TPM2

tropomyosin 2

HCNC Approved Symbol
TPM2 (HGNC:12011)
Genomic Coordinates
9:35,681,993 - 35,690,056 (9p13.3)
Synonyms
DA1, NEM4, AMCD1
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Arthrogryposis, distal, type 1A
108120AD
Arthrogryposis, distal, type 2B4
108120AD
Congenital myopathy 23
609285AD

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the TPM2 gene.

Frequently observed phenotypes

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

Emg: myopathy
 2 (20.0%)
Musculotendinous retraction
 2 (20.0%)
Hypotonia
 2 (20.0%)
Myopathy
 2 (20.0%)
Patent foramen ovale
 2 (20.0%)