ATL1 - Gene browser

ATL1

atlastin GTPase 1

HCNC Approved Symbol: ATL1 (HGNC:11231)
Genomic Coordinates: 14:50,533,082 - 50,633,068 (14q22.1)
Synonyms: FSP1, AD-FSP, SPG3, SPG3A
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

17Patients

In total, 17 patients were diagnosed with a variant in the ATL1 gene.

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

017
Patient count

Spastic paraplegia: 8 (47.1%)
Patient Count: 8 (47.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (47.1%)
Spasticity: 5 (29.4%)
Patient Count: 5 (29.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (29.4%)
Lower limb spasticity: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Peripheral neuropathy: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Spastic gait: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)