Childhood interstitial lung disease
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 27 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
FLNA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #300049) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
heterotopia, periventricular, X-linked dominant, MONDO:0010233; Heterotopia, periventricular, 1, OMIM:300049
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
- NHS GMS
- Phenotypes
-
- heterotopia, periventricular, X-linked dominant, MONDO:0010233
- Heterotopia, periventricular, 1, OMIM:300049
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- Panels with this gene
-
- Osteogenesis imperfecta
- Childhood interstitial lung disease
- Arthrogryposis
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Limb disorders
- Fetal anomalies
- Radial dysplasia
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Familial non syndromic congenital heart disease
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- DDG2P
- Skeletal dysplasia
- COVID-19 research
- Clefting
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- Malformations of cortical development
- Hydrocephalus
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: FLNA was added gene: FLNA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FLNA were set to heterotopia, periventricular, X-linked dominant, MONDO:0010233; Heterotopia, periventricular, 1, OMIM:300049