Ehlers Danlos syndromes

Gene: FLNA

Red List (low evidence)

FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels

4 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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.

Publications

History Filter Activity

12 Jul 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FLNA were changed from to Cardiac valvular dysplasia, X-linked, OMIM:314400; Heterotopia, periventricular, 1, OMIM:300049

25 Jul 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

7 Apr 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FLNA were set to 28306229

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FLNA was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FLNA was created by ellenmcdonagh