Familial non syndromic congenital heart disease
Gene: FLNAComment 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
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
Publications for gene: FLNA were set to 17190868, 8230166
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)
Phenotypes for gene: FLNA were changed from Cardiac valvular dysplasia, X-linked 314400 to Cardiac valvular dysplasia, X-linked, OMIM:314400
Promoted to version 1 by Alice Gardham on 26th January
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FLNA was created by agardham
FLNA was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature,Radboud University Medical Center, Nijmegen,UKGTN