TRPS1 - Gene browser

TRPS1

transcriptional repressor GATA binding 1

HCNC Approved Symbol: TRPS1 (HGNC:12340)
Genomic Coordinates: 8:115,408,496 - 115,668,975 (8q23.3)
Synonyms: LGCR, GC79
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the TRPS1 gene.

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

06
Patient count

Alopecia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Ectodermal dysplasia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Skeletal dysplasia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Anhidrotic ectodermal dysplasia: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Delayed teeth eruption: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)