Ehlers Danlos syndromesGene: FLNA
Cardiac valvular disease phenotype is not considered a strong enough overlap with connective tissue disorders for it to be included on this panel. It is green on FTAAD and familial non-syndromic congenital heart disease panels which seem more appropriate.
Created: 25 Jul 2017, 1:05 p.m.
Cardiac valvular dysplasia, X-linked;314400. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:29 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Review from Dr Anthony Vandersteen, IWK Health centre in Halifax, Nova Scotia 'fits better into PVNH syndrome rather than EDS, so should go into cortical dysplasia panel (the most expressed phenotype in those families), it is in some Familial thoracic aortic aneurysm and dissection (TAAD) panels in the US but is primarily neurological phenotype.'
Created: 26 Apr 2017, 9:52 a.m.
Filamin A related EDS with periventricular nodular heterotopia associated to variants of FLNA is no longer to be included in the EDS spectrum (PMID:28306229)
Created: 19 Apr 2017, 7:57 a.m.
Phenotypes for gene: FLNA were changed from to Cardiac valvular dysplasia, X-linked, OMIM:314400; Heterotopia, periventricular, 1, OMIM:300049
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for FLNA were set to 28306229
FLNA was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list
FLNA was created by ellenmcdonagh