Radial dysplasia
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 27 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
- Other
- 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
- Complete
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from Melnick-Needles syndrome, 309350 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
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for FLNA were set to 12612583
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for FLNA were set to Melnick-Needles syndrome, 309350
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Rebecca Foulger (Genomics England curator)FLNA was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)FLNA was added to Radial dysplasiapanel. Sources: Other