Inherited bleeding disorders
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Changed MOI from 'X-LINKED... biallelic mutations in females' to 'X-LINKED... monoallelic mutations in females may cause disease'.
FLNA-related periventricular nodular heterotopia (MIM# 300049) can be associated with macrothrombocytopenia and a bleeding tendency in some cases (PMID: 16684786; 21960593; 29449050; 32299270). Affected females with heterozygous variants in FLNA have been identified indicating XLD inheritance.
The association with macrothrombocytopenia has been supported by in vitro assays and animal model (PMID: 21652675; 21960593; 30602618; 31471375)Created: 12 Jul 2021, 2:13 p.m. | Last Modified: 12 Jul 2021, 2:13 p.m.
Panel Version: 1.161
Louise Daugherty (Genomics England Curator)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Macrothrombocytopenia
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Macrothrombocytopenia
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
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Heterotopia, periventricular, 1, OMIM:300049
- Macrothrombocytopenia
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- Limb disorders
- DDG2P
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- COVID-19 research
- Osteogenesis imperfecta
- Clefting
- Malformations of cortical development
- Hydrocephalus
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FLNA were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from Macrothrombocytopenia to Heterotopia, periventricular, 1, OMIM:300049; Macrothrombocytopenia
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)FLNA was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)FLNA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FLNA was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene