Malformations of cortical development
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Sarah Leigh (Genomics England Curator)
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.
Ian Berry (Leeds Genetics Laboratory)
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
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
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Heterotopia, periventricular, 1, OMIM:300049
- Tags
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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 Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)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)
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for FLNA was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to Version 1 on 22nd November 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FLNA was changed to Other - please specifiy in evaluation comments
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FLNA were set to Periventricular Heterotopia 300049; Melnick-Needles syndrome 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120
Added New Source
Sarah Leigh (Genomics England Curator)FLNA was added to Malformations of cortical developmentpanel. Source: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)FLNA was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)FLNA was added to Malformations of cortical developmentpanel. Sources: UKGTN