GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Filamin group and related disorder gp of SD - many cases reported with missense variants or in-frame dels, often recurrent (eg c.5217G>A in TOD, exon 22 variants in MNS). Other disorders associated with this gene include - cardiac valvular dysplasia - 314400, PVNH - 300049 and neuronal intestinal pseudoobstruction (3000048). LOF/fs associated with non-skeletal phenotypes, eg PVNH; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
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
Melnick Needles syndrome 309350; Otopalatodigital syndrome, type I -311300; Otopalatodigital syndrome, type II -304120; Frontometaphyseal dysplasia 305620; Terminal osseous dysplasia 300244
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
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
-
- Terminal osseous dysplasia 300244
- Melnick Needles syndrome 309350
- Frontometaphyseal dysplasia 305620
- Otopalatodigital syndrome, type II -304120
- Otopalatodigital syndrome, type I -311300
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FLNA was added gene: FLNA was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. 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 Terminal osseous dysplasia 300244; Melnick Needles syndrome 309350; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Otopalatodigital syndrome, type I -311300