Stroke
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 32 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
XLD. Stroke is said to be a feature of PVNH in OMIM but few documented reports found.Created: 12 Mar 2021, 6:55 a.m. | Last Modified: 12 Mar 2021, 6:55 a.m.
Panel Version: 0.81
Mode of inheritance
Other
Phenotypes
Heterotopia, periventricular, 1 , MIM#300049; Melnick-Needles syndrome 30, MIM#9350
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Heterotopia, periventricular, 1 , MIM#300049
- Melnick-Needles syndrome 30, MIM#9350
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Clefting disorders
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Genetic Epilepsy
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- Skeletal Dysplasia_Fetal
- Arthrogryposis
- Multiple joint dislocations and laxity
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Prepair 500+
- Interstitial Lung Disease
- Callosome
- Spontaneous coronary artery dissection
- Mackenzie's Mission_Reproductive Carrier Screening
- Gastrointestinal neuromuscular disease
- Periventricular Grey Matter Heterotopia
- Pulmonary Arterial Hypertension
- Transplant Co-Morbidity Superpanel
- Hand and foot malformations
- Pierre Robin Sequence
- Short Long Bones with Advanced Carpal Bone Age
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: flna has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FLNA were changed from Periventricular nodular heterotopia 1 to Heterotopia, periventricular, 1 , MIM#300049; Melnick-Needles syndrome 30, MIM#9350
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FLNA were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: flna has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FLNA was added gene: FLNA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode 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) Phenotypes for gene: FLNA were set to Periventricular nodular heterotopia 1