GABRA1 - Gene browser

GABRA1

gamma-aminobutyric acid type A receptor subunit alpha1

HCNC Approved Symbol: GABRA1 (HGNC:4075)
Genomic Coordinates: 5:161,847,191 - 161,899,971 (5q34)
Synonyms: EJM5
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the GABRA1 gene.

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

04
Patient count

Absent speech: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Autism: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Eeg abnormality: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Hyperactivity: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Poor eye contact: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)