FLNA - Gene browser

FLNA

filamin A

HCNC Approved Symbol: FLNA (HGNC:3754)
Genomic Coordinates: 23:154,348,531 - 154,374,634 (Xq28)
Synonyms: ABP-280, FLN1, FLN, OPD2, OPD1
Disease Associations: This gene is associated with the following 10 diseases in OMIM.

Diagnosed Cases

21Patients

In total, 21 patients were diagnosed with a variant in the FLNA gene.

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

021
Patient count

Atrial septal defect: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Periventricular neuronal heterotopia: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Seizures: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)
Macrocephaly: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)
Thrombocytopenia: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)