Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 28 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Fennell et al summarise 6 cases (3 female, 3 male) with CSS, OPD spectrum disorder and FLNA variants - 5 had MSS. Rare complication. LOF/fs associated with non-skeletal phenotypes, eg PVNH ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 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
frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FLNA; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Richard Scott (Genomics England Curator)
Comment on mode of pathogenicity: Definite but low frequency association of various type A filaminopathies with gain-of-function pathophysiology (loss of function associated with periventricular nodular heterotopia)Created: 1 Feb 2016, 11:09 a.m.
Andrew Wilkie (University of Oxford)
Definite but low frequency association of various type A filaminopathies with gain-of-function pathophysiology (loss of function associated with periventricular nodular heterotopia)Created: 14 Sep 2015, 12:06 p.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
frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Frontometaphyseal dysplasia 1, OMIM:305620
- Melnick-Needles syndrome, OMIM:309350
- Otopalatodigital syndrome, type I, OMIM:311300
- Otopalatodigital syndrome, type II, OMIM:304120
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Osteogenesis imperfecta
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Clefting
- Pulmonary arterial hypertension
- Arthrogryposis
- Fetal anomalies
- Radial dysplasia
- Familial Meniere Disease
- Skeletal dysplasia
- Limb disorders
- Cytopenia - NOT Fanconi anaemia
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Childhood interstitial lung disease
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- Ehlers Danlos syndrome with a likely monogenic cause
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hydrocephalus
- Malformations of cortical development
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to FLNA. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for FLNA were set to frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome
Set publications
Richard Scott (Genomics England Curator)Publications for FLNA were set to 25873011
Set mode of pathogenicity
Richard Scott (Genomics England Curator)Mode of pathogenicity for FLNA was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set mode of pathogenicity
Richard Scott (Genomics England Curator)Mode of pathogenicity for FLNA was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for FLNA was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)FLNA was added to Craniosynostosis syndromespanel. Sources: Expert list