ALS2 - Gene browser

ALS2

alsin Rho guanine nucleotide exchange factor ALS2

HCNC Approved Symbol: ALS2 (HGNC:443)
Genomic Coordinates: 2:201,700,267 - 201,780,933 (2q33.1)
Synonyms: ALS2CR6
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the ALS2 gene.

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

08
Patient count

Spasticity: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Lower limb spasticity: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Motor deficits: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Muscle hypotrophy: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Nonprogressive encephalopathy: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)