Mosaic brain disorders - deep sequencing
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:28 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: X linked dominant, mosaic. Publications: Jamuar et al 2013 NEJM, Lange et al 2015 Orphanet Journal of Rare Diseases. Mechanism: LOF (NB different set of phenotypes associated with GOF variants that are not relevant to this clinical indication. Penetrance: no information provided.Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2
Phenotypes
Seizures, Periventrical Nodular Heterotopia, Thoracic aneurysms, respiratory insufficiency
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
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Heterotopia, periventricular OMIM:300049
- Tags
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Radial dysplasia
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Familial non syndromic congenital heart disease
- Bleeding and platelet disorders
- COVID-19 research
- Clefting
- Limb disorders
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Skeletal dysplasia
- Paediatric pseudo-obstruction syndrome
- Arthrogryposis
- Malformations of cortical development
- Ehlers Danlos syndrome with a likely monogenic cause
- Hydrocephalus
- Osteogenesis imperfecta
- Intellectual disability
- Pigmentary skin disorders
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to FLNA.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FLNA were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: flna has been classified as Green List (High Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag somatic tag was added to gene: FLNA.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular OMIM:300049
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FLNA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: FLNA was added gene: FLNA was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: FLNA was set to