FIG4 - Gene browser

FIG4

FIG4 phosphoinositide 5-phosphatase

HCNC Approved Symbol: FIG4 (HGNC:16873)
Genomic Coordinates: 6:109,691,296 - 109,825,426 (6q21)
Synonyms: SAC3, hSac3, dJ249I4.1, ALS11, CMT4J, KIAA0274
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the FIG4 gene.

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

06
Patient count

Distal lower limb muscle weakness: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Distal muscle atrophy, lower limbs: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Pes cavus: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Ankle contractures: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Elevated serum cpk: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)