Osteogenesis imperfecta
Gene: FLNA
FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 28 panels
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Intellectual disability
- Hydrocephalus
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- DDG2P
- Pulmonary arterial hypertension
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection
- Pigmentary skin disorders
- Inherited bleeding disorders
- Arthrogryposis
- Fetal anomalies
- Intestinal failure or congenital diarrhoea
- Clefting
- Bleeding and platelet disorders
- Radial dysplasia
- Familial Meniere Disease
- Limb disorders
- Cytopenia - NOT Fanconi anaemia
- Malformations of cortical development
- Familial non syndromic congenital heart disease
- Paediatric pseudo-obstruction syndrome
- Thoracic aortic aneurysm or dissection (GMS)
- Osteogenesis imperfecta
- Ehlers Danlos syndrome with a likely monogenic cause
- COVID-19 research
- Gastrointestinal neuromuscular disorders
- Childhood interstitial lung disease
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: FLNA.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FLNA was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory