TBR1 - Gene browser

TBR1

T-box brain transcription factor 1

HCNC Approved Symbol: TBR1 (HGNC:11590)
Genomic Coordinates: 2:161,416,297 - 161,425,870 (2q24.2)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the TBR1 gene.

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

011
Patient count

Global developmental delay: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Microcephaly: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Delayed speech and language development: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Developmental delay: 1 (9.1%)
Patient Count: 1 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (9.1%)
Epilepsy: 1 (9.1%)
Patient Count: 1 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (9.1%)