ACTL6A - Gene browser

ACTL6A

actin like 6A

HCNC Approved Symbol: ACTL6A (HGNC:24124)
Genomic Coordinates: 3:179,562,926 - 179,588,407 (3q26.33)
Synonyms: Actl6, BAF53A, Arp4, Baf53a, INO80K, SMARCN1
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the ACTL6A gene.

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

03
Patient count

Low set ears: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Autism spectrum disorder: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Fair skin: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Global developmental delay: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Prominent nasal tip: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)