FLNA Chromosome X
Filamin A
Upload your DNA to see your personal genotypes for variants in FLNA.
What This Gene Does
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Filamin family
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000196924
Associated Conditions (77)
Melnick-Needles syndrome
Oto-palato-digital syndrome
type II
Heterotopia
periventricular
X-linked dominant
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
Thoracic aortic aneurysm or dissection
FLNA-related disorder
Cardiac valvular dysplasia
X-linked
Neurodevelopmental delay
type I
History of neurodevelopmental disorder
9 conditions
+57 more conditions
Key Variants
RS1004772663
Conflicting classifications of pathogenicity
Melnick-Needles syndrome, Oto-palato-digital syndrome, type II
Health Risk
RS10458342
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Heterotopia, periventricular
Health Risk
RS1057518479
Conflicting classifications of pathogenicity
Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
Health Risk
RS1057520770
Conflicting classifications of pathogenicity
Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
Health Risk
RS1057524317
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057524434
Conflicting classifications of pathogenicity
Frontometaphyseal dysplasia, Heterotopia, periventricular
Health Risk
RS1057524473
Conflicting classifications of pathogenicity
Melnick-Needles syndrome, Frontometaphyseal dysplasia, Heterotopia
Health Risk
RS1064796297
Conflicting classifications of pathogenicity
Thoracic aortic aneurysm or dissection, Thoracic aortic aneurysm or dissection
Health Risk
RS1085307783
Conflicting classifications of pathogenicity
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
Health Risk
RS111516546
Conflicting classifications of pathogenicity
Heterotopia, periventricular, X-linked dominant
Health Risk
RS1131691935
Conflicting classifications of pathogenicity
Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
Health Risk
RS1172505050
Conflicting classifications of pathogenicity
Heterotopia, periventricular, X-linked dominant
Health Risk
All Variants (695)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786205177 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS786205178 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS786205183 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS786205186 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS786205201 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS797044496 | Health Risk | Pathogenic | — |
| RS797044690 | Health Risk | Pathogenic | — |
| RS797044724 | Health Risk | Pathogenic | — |
| RS797045163 | Health Risk | Pathogenic | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT |
| RS80338840 | Health Risk | Pathogenic | Intestinal pseudoobstruction, neuronal, chronic idiopathic |
| RS863223295 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS863223296 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS863223297 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS863223298 | Health Risk | Pathogenic | Otopalatodigital syndrome spectrum disorder, Otopalatodigital syndrome spectrum disorder |
| RS863223299 | Health Risk | Pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS863223632 | Health Risk | Pathogenic | — |
| RS863223633 | Health Risk | Pathogenic | — |
| RS863223634 | Health Risk | Pathogenic | — |
| RS863223645 | Health Risk | Pathogenic | — |
| RS863223646 | Health Risk | Pathogenic | — |
| RS886038987 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886041710 | Health Risk | Pathogenic | Periventricular nodular heterotopia, Periventricular nodular heterotopia |
| RS886041771 | Health Risk | Pathogenic | — |
| RS886044824 | Health Risk | Pathogenic | — |
| RS886044850 | Health Risk | Pathogenic | — |
| RS1057518223 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS137853312 | Health Risk | Pathogenic/Likely pathogenic | Frontometaphyseal dysplasia 1, Oto-palato-digital syndrome, type II |
| RS1557175195 | Health Risk | Pathogenic/Likely pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS1557179349 | Health Risk | Pathogenic/Likely pathogenic | Periventricular nodular heterotopia, Periventricular nodular heterotopia |
| RS1569551861 | Health Risk | Pathogenic/Likely pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS1603360542 | Health Risk | Pathogenic/Likely pathogenic | Cardiac valvular dysplasia, X-linked, Familial thoracic aortic aneurysm and aortic dissection |
| RS1603362871 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Needles syndrome, Heterotopia, periventricular |
| RS2067676994 | Health Risk | Pathogenic/Likely pathogenic | Cardiac valvular dysplasia, X-linked, Cardiac valvular dysplasia |
| RS2148118126 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Needles syndrome, Frontometaphyseal dysplasia, Heterotopia |
| RS2522735557 | Health Risk | Pathogenic/Likely pathogenic | Heterotopia, periventricular, X-linked dominant |
| RS2522771792 | Health Risk | Pathogenic/Likely pathogenic | Oto-palato-digital syndrome, type II, Heterotopia |
| RS267606816 | Health Risk | Pathogenic/Likely pathogenic | Cardiac valvular dysplasia, X-linked, Heterotopia |
| RS28935469 | Health Risk | Pathogenic/Likely pathogenic | Oto-palato-digital syndrome, type I, Cleft palate |
| RS28935472 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Needles syndrome, Frontometaphyseal dysplasia, Oto-palato-digital syndrome |
| RS28935473 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Needles syndrome, Frontometaphyseal dysplasia, Oto-palato-digital syndrome |
| RS398123614 | Health Risk | Pathogenic/Likely pathogenic | Oto-palato-digital syndrome, type II, Heterotopia |
| RS782178831 | Health Risk | Pathogenic/Likely pathogenic | Cardiac valvular dysplasia, X-linked, Heterotopia |
| RS797045044 | Health Risk | Pathogenic/Likely pathogenic | Cardiac valvular dysplasia, X-linked, Heterotopia |
| RS863223630 | Health Risk | Pathogenic/Likely pathogenic | Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II |
| RS863223636 | Health Risk | Pathogenic/Likely pathogenic | Heterotopia, periventricular, X-linked dominant |