ACTL6B - Gene browser

ACTL6B

actin like 6B

HCNC Approved Symbol: ACTL6B (HGNC:160)
Genomic Coordinates: 7:100,643,097 - 100,656,448 (7q22.1)
Synonyms: BAF53B, SMARCN2, ACTL6
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the ACTL6B gene.

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

07
Patient count

Epilepsy: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Intellectual disability: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Central hypotonia: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Delayed developmental milestones: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Diffuse cerebral atrophy: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)