Pulmonary arterial hypertension
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 27 panels
1 review
Karen Stals (Royal Devon and Exeter Hospital)
Multiple papers report loss of function FLNA variants as a cause of neonatal/childhood pulmonary hypertension (see PMID: 30547349), GeneReviews FLNA deficiency page lists pulmonary findings including pulmonary hypertension in list of clinical features.
Sources: LiteratureCreated: 28 Apr 2026, 12:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary hypertension; respiratory failure
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Pulmonary hypertension
- respiratory failure
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection
- Limb disorders
- DDG2P
- Inherited bleeding disorders
- Arthrogryposis
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Radial dysplasia
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Clefting
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Pigmentary skin disorders
- Familial non syndromic congenital heart disease
- Bleeding and platelet disorders
- Pulmonary arterial hypertension
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Paediatric pseudo-obstruction syndrome
- Fetal anomalies
- Ehlers Danlos syndrome with a likely monogenic cause
- Hydrocephalus
- Skeletal dysplasia
- Osteogenesis imperfecta
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Karen Stals (Royal Devon and Exeter Hospital)gene: FLNA was added gene: FLNA was added to Pulmonary arterial hypertension. Sources: Literature Mode of inheritance for gene: FLNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNA were set to PMID: 30547349; PMID: 28457522 Phenotypes for gene: FLNA were set to Pulmonary hypertension; respiratory failure Review for gene: FLNA was set to GREEN gene: FLNA was marked as current diagnostic