FLNA Chromosome X

Filamin A
695 variants 695 Health Risk

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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
RS369717556 Health Risk Conflicting classifications of pathogenicity Abnormality of neuronal migration, Heterotopia, periventricular
RS369768801 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Melnick-Needles syndrome, Oto-palato-digital syndrome
RS370196495 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS370277156 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS370490152 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS370491691 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS370735674 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS370868704 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS370913359 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS371366175 Health Risk Conflicting classifications of pathogenicity FG syndrome 2, Heterotopia, periventricular
RS371368679 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 9 conditions, Frontometaphyseal dysplasia
RS371501734 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS371600068 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Oto-palato-digital syndrome, type II
RS371677498 Health Risk Conflicting classifications of pathogenicity 9 conditions, Oto-palato-digital syndrome, type II
RS371689052 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS371707134 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS371724771 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS371830740 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia, periventricular
RS371839875 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS371936356 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS372021340 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS372113435 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS372265042 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS372673802 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia, periventricular
RS372729831 Health Risk Conflicting classifications of pathogenicity Sudden unexplained death in childhood, Oto-palato-digital syndrome, type II
RS373073505 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS373089783 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS373103712 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
RS373286506 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS373862172 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Oto-palato-digital syndrome, type II
RS374130804 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS374295965 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Oto-palato-digital syndrome, type II
RS375463904 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS375495397 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS376461465 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS376726422 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS376774130 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia, periventricular
RS376867823 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II
RS376891541 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS377046577 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS377390031 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS377518545 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS377576796 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS3819330 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS398123613 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS398123615 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS398123617 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS398123618 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection, Oto-palato-digital syndrome
RS398123624 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS56102764 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Heterotopia, periventricular
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