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| 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). |
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| Ehlers Danlos syndrome with a likely monogenic cause v2.29 | ELN | Ivone Leong Phenotypes for gene: ELN were changed from Cutis laxa, AD, 123700 to Cutis laxa, autosomal dominant, OMIM:123700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.43 | ELN | Duncan Baker reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.42 | ELN | Eleanor Williams reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.41 | ELN |
Eleanor Williams Source NHS GMS was added to ELN. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Ehlers Danlos syndrome with a likely monogenic cause | ELN | Angela Brady reviewed ELN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause | ELN | Neeti Ghali reviewed ELN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause | ELN | Louise Daugherty classified ELN as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause | ELN | Louise Daugherty commented on ELN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||