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
RS1004772663 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Oto-palato-digital syndrome, type II
RS10458342 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia, periventricular
RS1057518479 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
RS1057520770 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
RS1057524317 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1057524434 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia, periventricular
RS1057524473 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia, Heterotopia
RS1064796297 Health Risk Conflicting classifications of pathogenicity Thoracic aortic aneurysm or dissection, Thoracic aortic aneurysm or dissection
RS1085307783 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS111516546 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1131691935 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
RS1172505050 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1181500076 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1187268269 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS1198953814 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS1209865046 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia, periventricular
RS1226982948 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1231515435 Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome, Heterotopia
RS12395634 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1281469151 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1293701269 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS1304244536 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1324926264 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS1347740802 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS1350949025 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1351119633 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1360400826 Health Risk Conflicting classifications of pathogenicity Cardiac valvular dysplasia, X-linked, Heterotopia
RS1360829798 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS137853311 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS137853317 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type I, type II
RS1380007907 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1381802174 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia, Heterotopia
RS1382076574 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Heterotopia, periventricular
RS1400230946 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1402204338 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1420631223 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS1431672096 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1443563081 Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia, periventricular
RS1461515007 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1477689141 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS1483960506 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Heterotopia
RS1485769153 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS1488268931 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1489530369 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Oto-palato-digital syndrome, type II
RS1557175287 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1557175308 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
RS1557175387 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS1557175388 Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular, X-linked dominant
RS1557175616 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia
RS1557175646 Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II, Melnick-Needles syndrome
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