Familial non syndromic congenital heart disease
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Changed MOI from 'X-LINKED... biallelic mutations in females' to 'X-LINKED... monoallelic mutations in females may cause disease'.
Heterozygous females are more mildly affected than hemizygous males, but some healthy female carriers have also been described.Created: 12 Jul 2021, 2:55 p.m. | Last Modified: 12 Jul 2021, 2:55 p.m.
Panel Version: 1.62
Alice Gardham (Genomics England)
Aortic and mitral valve disease mostly but can be all valves. May not present in childhoodCreated: 30 Nov 2016, 1:45 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Cardiac valvular dysplasia, X-linked 314400
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Literature
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cardiac valvular dysplasia, X-linked, OMIM:314400
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- Limb disorders
- DDG2P
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- COVID-19 research
- Osteogenesis imperfecta
- Clefting
- Malformations of cortical development
- Hydrocephalus
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FLNA were set to 17190868, 8230166
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from Cardiac valvular dysplasia, X-linked 314400 to Cardiac valvular dysplasia, X-linked, OMIM:314400
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Created
Alice Gardham (Genomics England)FLNA was created by agardham
Added New Source
Alice Gardham (Genomics England)FLNA was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature,Radboud University Medical Center, Nijmegen,UKGTN