Clefting
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
4 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as clefting is a common enough feature and the other features can be subtleCreated: 31 May 2017, 2:36 p.m.
Helen Brittain (Genomics England Curator)
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
OTOPALATODIGITAL SYNDROME, TYPE I; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed status to Green clefting is a common enough feature and the other features can be subtleCreated: 9 Feb 2017, 2:30 p.m.
Comment on list classification: Evidence for this to be Green if phenotypes are relevant for this panelCreated: 27 Jan 2017, 11:32 a.m.
Comment on phenotypes: added disorders with a known Gene-Phenotype that include clinical presentation for clefting as panel represents syndromic and non-syndromic cleft lip and or cleft palate.Created: 25 Jan 2017, 12:33 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
FLNA causes a spectrum of disorders. It is not a main cause of orofacial clefting.Created: 8 Dec 2016, 10:44 a.m.
Phenotypes
Orofacial clefting with skeletal anomalies
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
- UKGTN
- 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
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Intellectual disability
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Limb disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Bleeding and platelet disorders
- DDG2P
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Clefting
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- COVID-19 research
- Osteogenesis imperfecta
- Malformations of cortical development
- Hydrocephalus
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from Orofacial Clefting with skeletal anomalies; Otopalatodigital syndrome, type I, 311300 (includes clefting); Otopalatodigital syndrome, type II, 304120 (includes clefting); Melnick-Needles syndrome, 309350 (includes clefting); OTOPALATODIGITAL SYNDROME, TYPE I; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1 to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FLNA was added to Cleftingpanel. Source: Expert Review Green
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for FLNA were set to 10706363; 20301567;16538226;12612583
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FLNA were set to Orofacial Clefting with skeletal anomalies; Otopalatodigital syndrome, type I, 311300 (includes clefting);Otopalatodigital syndrome, type II, 304120 (includes clefting);Melnick-Needles syndrome, 309350 (includes clefting)
Set Mode of Inheritance
Louise Daugherty (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)
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for FLNA was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Created
Olivia Niblock (Genomics England Curator)FLNA was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)FLNA was added to Cleftingpanel. Sources: UKGTN