Cytopenia - NOT Fanconi anaemia
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 27 panels
1 review
Louise Daugherty (Genomics England Curator)
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Nurden et al 2011; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
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 Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Heterotopia, periventricular, 1, OMIM:300049
- Macrothrombocytopenia
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- 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 mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FLNA was changed from Unknown 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 to Heterotopia, periventricular, 1, OMIM:300049; Macrothrombocytopenia
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to FLNA.
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Red was added to FLNA.
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene FLNA was changed from to Unknown
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: FLNA was added gene: FLNA was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: FLNA was set to