Limb disorders
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
4 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs. Therefore this is on the differential for radial dysplasias and seems appropriate to include. Mostly females affected, but some surviving males with de novo mutations.Created: 11 May 2017, 12:27 p.m.
Comment on list classification: Sufficient cases for causation.Created: 11 May 2017, 12:24 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from 'other' as this option will also tier biallelic variants in females.Created: 3 Apr 2017, 3:58 p.m.
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: XLD or XLR and phenotype 300244 is unknownCreated: 7 Jul 2016, 11:04 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:48 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Cardiac valvular dysplasia, X-linked 314400 XLR; Congenital short bowel syndrome 300048 XLR; FG syndrome 2 300321; Frontometaphyseal dysplasia 305620 XLR; Heterotopia, periventricular 300049 XLD; Heterotopia, periventricular, ED variant 300537; Intestinal pseudoobstruction, neuronal 300048 XLR; Melnick-Needles syndrome 309350 XLD; Otopalatodigital syndrome, type I 311300 XLD; Otopalatodigital syndrome, type II 304120 XLD; Terminal osseous dysplasia 300244
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
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Frontometaphyseal dysplasia 1, OMIM:305620
- Melnick-Needles syndrome, OMIM:309350
- Otopalatodigital syndrome, type I, OMIM:311300
- Otopalatodigital syndrome, type II, OMIM:304120
- Terminal osseous dysplasia, OMIM:300244
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- Publications
- 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
- Early onset or syndromic epilepsy
- Hydrocephalus
- Osteogenesis imperfecta
- Intellectual disability
- Pigmentary skin disorders
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from Frontometaphyseal dysplasia 305620 XLR; Melnick-Needles syndrome, 309350; Osteodysplasty Melnick Needles 309350 XLD; Otopalatodigital syndrome, type II 304120 XLD; Terminal osseous dysplasia 300244 to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120; Terminal osseous dysplasia, OMIM:300244
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 1
Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Added phenotypes Melnick-Needles syndrome, 309350 for gene: FLNA Publications for gene FLNA were changed from to 12612583
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to FLNA. Panel: Limb disorders Model 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)
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to FLNA. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)FLNA was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)FLNA was created by Ellen McDonagh