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TBC1D23

TBC1 domain family member 23

HCNC Approved Symbol
TBC1D23 (HGNC:25622)
Genomic Coordinates
3:100,260,992 - 100,325,238 (3q12.1-q12.2)
Synonyms
FLJ11046
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the TBC1D23 gene.

Frequently observed phenotypes

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

Delayed myelination
 2 (100.0%)
Dyskinesia
 2 (100.0%)
Failure to thrive
 2 (100.0%)
Global development delay
 2 (100.0%)
Hypomyelination of the brain
 2 (100.0%)
TBC1D23 - Gene browser | 3billion