TGM1 - Gene browser

TGM1

transglutaminase 1

HCNC Approved Symbol: TGM1 (HGNC:11777)
Genomic Coordinates: 14:24,249,114 - 24,263,177 (14q12)
Synonyms: TGASE, TGK, LI, LI1, ICR2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

35Patients

In total, 35 patients were diagnosed with a variant in the TGM1 gene.

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

035
Patient count

Congenital lamellar ichthyosis: 10 (28.6%)
Patient Count: 10 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
10 (28.6%)
Congenital nonbullous ichthyosiform erythroderma: 9 (25.7%)
Patient Count: 9 (25.7%)
% of total patients presenting each phenotype is shown in parentheses.
9 (25.7%)
Congenital ichthyosis: 9 (25.7%)
Patient Count: 9 (25.7%)
% of total patients presenting each phenotype is shown in parentheses.
9 (25.7%)
Icthyosis, generalized: 6 (17.1%)
Patient Count: 6 (17.1%)
% of total patients presenting each phenotype is shown in parentheses.
6 (17.1%)
Ichthyosis: 6 (17.1%)
Patient Count: 6 (17.1%)
% of total patients presenting each phenotype is shown in parentheses.
6 (17.1%)