Malformations of cortical development
Gene: FLNAComment on mode of inheritance: Changed from 'other' in order to capture variants within this gene in our current tiering pipeline.Created: 5 Apr 2017, 6:22 a.m.
Added tag for X-linked over dominance.Created: 3 Apr 2017, 3:58 p.m.
Comment on mode of inheritance: Gene causes X-linked dominant disease, almost exclusively in females. Very rare in affected males (usually hypomorphic non-truncating mutations or mosaics).Created: 1 Nov 2016, 1:17 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported at least 16 in Periventricular Heterotopia 300049, 5 in Melnick-Needles syndrome 309350 and 8 in Otopalatodigital syndromesCreated: 1 Nov 2016, 1:08 p.m.
Comment on phenotypes: Variants also reported in Cardiac valvular dysplasia, X-linked 314400, Congenital short bowel syndrome 300048 XLR 3
FG syndrome 2 300321, Frontometaphyseal dysplasia 1 305620, Intestinal pseudoobstruction, neuronal 300048, Terminal osseous dysplasia 300244Created: 1 Nov 2016, 1:03 p.m.
Gene causes X-linked dominant disease, almost exclusively in females. Very rare in affected males (usually hypomorphic non-truncating mutations or mosaics).Created: 4 Oct 2016, 7:08 p.m.
Mode of inheritance
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FLNA were changed from Periventricular Heterotopia 300049; Melnick-Needles syndrome 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120 to Heterotopia, periventricular, 1, OMIM:300049
Mode of inheritance for FLNA was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for FLNA was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Promoted to Version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FLNA was changed to Other - please specifiy in evaluation comments
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for FLNA were set to Periventricular Heterotopia 300049; Melnick-Needles syndrome 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120
FLNA was added to Malformations of cortical developmentpanel. Source: Radboud University Medical Center, Nijmegen
FLNA was created by sleigh
FLNA was added to Malformations of cortical developmentpanel. Sources: UKGTN