ITM2B

ITM2B

integral membrane protein 2B

HCNC Approved Symbol: ITM2B (HGNC:6174)
Genomic Coordinates: 13:48,233,206 - 48,270,357 (13q14.2)
Synonyms: BRI, E25B, E3-16, BRICD2B, BRI2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the ITM2B gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Visual impairment: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Cognitive impairment: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Ischemic stroke: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30