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Ehlers Danlos syndrome with a likely monogenic cause v4.5 FLNA Ida Ertmanska Mode of inheritance for gene: FLNA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ehlers Danlos syndrome with a likely monogenic cause v4.4 FLNA Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: FLNA.
Tag Q1_26_NHS_review tag was added to gene: FLNA.
Ehlers Danlos syndrome with a likely monogenic cause v4.4 FLNA Ida Ertmanska Classified gene: FLNA as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v4.4 FLNA Ida Ertmanska Gene: flna has been classified as Amber List (Moderate Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v4.3 FLNA Ida Ertmanska Publications for gene: FLNA were set to 28306229
Ehlers Danlos syndrome with a likely monogenic cause v4.2 FLNA Ida Ertmanska changed review comment from: PMID: 34863227 Billon et al., 2021
Summary report of 3 patient cohorts: 10 French female index cases from the Rare Vascular Diseases Centre, aged 14-66, 23 cases from the filaminopathies diagnostic lab, and a literature review of 59 cases - total of 92 cases with monoallelic variants in FLNA and periventricular nodular heterotopia type 1 (X-linked dominant).
50% of patients did not have neurological symptoms. Most patients presented with combined cardiovascular (CV) and connective tissue disorder (CTD) features. CV anomalies, e.g. aortic aneurysm and/or dilation, were present in 75% of patients. CTD features were present in 75% of patients - e.g. joints hyperlaxity and skin hyperelasticity.

Studies analysed in the literature review: PMIDs:11532987;15249610;15459826;15668422;15994863;15994863;16303888;16684786;19917821;20014127;20730588;20888935;21194575;21960593;22238415;22366253;23032111;24906659;26059841;27091362;27144976;27739212;28177866;28457522;29334594;29449050;30089473;30547349

PMID: 15668422 Sheen et al., 2005 - first report
2 families and 9 sporadic cases with periventricular nodular heterotopia associated with joint hyperlaxity, skin hyperelasticity, and aortic aneurysm/dissection. The authors suggested calling this condition Ehlers–Danlos variant of periventricular heterotopia.

FLNA is putatively linked to FG syndrome 2, 300321, and associated with 9 X-linked conditions: Cardiac valvular dysplasia, X-linked, 314400; Congenital short bowel syndrome, 300048; Frontometaphyseal dysplasia 1, 305620; Heterotopia, periventricular, 1, 300049; Intestinal pseudoobstruction, neuronal, 300048; Melnick-Needles syndrome, 309350; Otopalatodigital syndrome, type I, 311300; Otopalatodigital syndrome, type II, 304120; Terminal osseous dysplasia, 300244 in OMIM (accessed 31st Oct 2025).; to: PMID: 34863227 Billon et al., 2021
Summary report of 3 patient cohorts: 10 French female index cases from the Rare Vascular Diseases Centre, aged 14-66, 23 cases from the filaminopathies diagnostic lab, and a literature review of 59 cases - total of 92 cases with monoallelic variants in FLNA and periventricular nodular heterotopia type 1 (X-linked dominant).
50% of patients did not have neurological symptoms. Most patients presented with combined cardiovascular (CV) and connective tissue disorder (CTD) features. CV anomalies, e.g. aortic aneurysm and/or dilation, were present in 75% of patients. CTD features were present in 75% of patients - e.g. joints hyperlaxity and skin hyperelasticity.

Studies analysed in the literature review: PMIDs:11532987;15249610;15459826;15668422;15994863;15994863;16303888;16684786;19917821;20014127;20730588;20888935;21194575;21960593;22238415;22366253;23032111;24906659;26059841;27091362;27144976;27739212;28177866;28457522;29334594;29449050;30089473;30547349

PMID: 15668422 Sheen et al., 2005 - first report
2 families and 9 sporadic cases with periventricular nodular heterotopia associated with joint hyperlaxity, skin hyperelasticity, and aortic aneurysm/dissection. The authors suggested calling this condition Ehlers–Danlos variant of periventricular heterotopia.

FLNA is putatively linked to FG syndrome 2, 300321, and associated with 9 X-linked conditions: Cardiac valvular dysplasia, X-linked, 314400; Congenital short bowel syndrome, 300048; Frontometaphyseal dysplasia 1, 305620; Heterotopia, periventricular, 1, 300049; Intestinal pseudoobstruction, neuronal, 300048; Melnick-Needles syndrome, 309350; Otopalatodigital syndrome, type I, 311300; Otopalatodigital syndrome, type II, 304120; Terminal osseous dysplasia, 300244 in OMIM (accessed 31st Oct 2025).
Ehlers Danlos syndrome with a likely monogenic cause v4.2 FLNA Ida Ertmanska edited their review of gene: FLNA: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ehlers Danlos syndrome with a likely monogenic cause v4.2 FLNA Ida Ertmanska reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11532987, 15249610, 15459826, 15668422, 15994863, 15994863, 16303888, 16684786, 19917821, 20014127, 20730588, 20888935, 21194575, 21960593, 22238415, 22366253, 23032111, 24906659, 26059841, 27091362, 27144976, 27739212, 28177866, 28457522, 29334594, 29449050, 30089473, 30547349, 34863227; Phenotypes: Heterotopia, periventricular, 1, OMIM:300049; Mode of inheritance: None
Ehlers Danlos syndrome with a likely monogenic cause v4.2 FLNA Neeti Ghali edited their review of gene: FLNA: Added comment: Currently on R125 panel as well as other panels but I would argue that there is a connective tissue phenotype for a number of patients with missense variants in FLNA. A patient recently had R101 for connective tissue features, but went on to have R125 because of valvular disease and a FLNA pathogenic variant was identified. This is reasonable given the function of the protein Filamin A. Therefore, it would be beneficial for it to also be on R101 panel; Changed publications to: 34863227, 30089473, 40883083, 23032111; Changed phenotypes to: connective tissue phenotype eg. hypermobility, skin hyperextensibility, perforated ear drum, retinal detachment, arterial fragility, aortic dilatation, arterial tortuosity, valvular disease, PVL, lung
Ehlers Danlos syndrome with a likely monogenic cause v2.59 FLNA Arina Puzriakova Phenotypes for gene: FLNA were changed from to Cardiac valvular dysplasia, X-linked, OMIM:314400; Heterotopia, periventricular, 1, OMIM:300049
Ehlers Danlos syndrome with a likely monogenic cause FLNA Helen Brittain edited their review of FLNA
Ehlers Danlos syndrome with a likely monogenic cause FLNA Helen Brittain commented on FLNA
Ehlers Danlos syndrome with a likely monogenic cause FLNA Angela Brady reviewed FLNA
Ehlers Danlos syndrome with a likely monogenic cause FLNA Neeti Ghali reviewed FLNA
Ehlers Danlos syndrome with a likely monogenic cause FLNA Louise Daugherty commented on FLNA
Ehlers Danlos syndrome with a likely monogenic cause FLNA Louise Daugherty reviewed FLNA