GPT2 - Gene browser

GPT2

glutamic--pyruvic transaminase 2

HCNC Approved Symbol: GPT2 (HGNC:18062)
Genomic Coordinates: 16:46,884,362 - 46,931,289 (16q11.2)
Synonyms: ALT2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the GPT2 gene.

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

02
Patient count

Developmental delay: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Facial dysmorphism: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Joint laxity: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Ligamentous laxity: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Stereotypy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)