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TMEM94

transmembrane protein 94

HCNC Approved Symbol
TMEM94 (HGNC:28983)
Genomic Coordinates
17:75,456,635 - 75,500,452 (17q25.1)
Synonyms
ERMA, KIAA0195
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the TMEM94 gene.

Frequently observed phenotypes

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

Brain atrophy
 1 (25.0%)
Congenital heart defect
 1 (25.0%)
Corpus callosum abnormalities
 1 (25.0%)
Delayed speech
 1 (25.0%)
Dysmorphic facies
 1 (25.0%)
TMEM94 - Gene browser | 3billion