ITPR1 - Gene browser

ITPR1

inositol 1,4,5-trisphosphate receptor type 1

HCNC Approved Symbol: ITPR1 (HGNC:6180)
Genomic Coordinates: 3:4,493,348 - 4,847,506 (3p26.1)
Synonyms: Insp3r1, IP3R1, ACV, PPP1R94, SCA15, SCA16, SCA29
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

24Patients

In total, 24 patients were diagnosed with a variant in the ITPR1 gene.

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

024
Patient count

Ataxia: 5 (20.8%)
Patient Count: 5 (20.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (20.8%)
Global developmental delay: 5 (20.8%)
Patient Count: 5 (20.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (20.8%)
Developmental delay: 3 (12.5%)
Patient Count: 3 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.5%)
Hypotonia: 3 (12.5%)
Patient Count: 3 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.5%)
Ataxic gait: 3 (12.5%)
Patient Count: 3 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.5%)