This Panel is marked as Deleted
Arthrogryposis Victorian Clinical Genetics Services
Gene: FLNA
FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Radial dysplasia
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Clefting
- 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
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Paediatric pseudo-obstruction syndrome
- Arthrogryposis
- Malformations of cortical development
- Ehlers Danlos syndrome with a likely monogenic cause
- Hydrocephalus
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FLNA was added to Arthrogryposis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)FLNA was created by Sarah Leigh