Arthrogryposis
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)
Contractures are part of the phenotype of some FLNA-related disorders, in particular otopalatodigital syndrome and terminal osseous dysplasia.Created: 11 Jul 2020, 7:54 a.m. | Last Modified: 11 Jul 2020, 7:54 a.m.
Panel Version: 0.133
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
FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244
Publications
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- FLNA-related disorders
- Otopalatodigital syndrome, type I 311300
- Otopalatodigital syndrome, type II 304120
- Terminal osseous dysplasia 300244
- 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FLNA were changed from to FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244
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, 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 mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FLNA was added gene: FLNA was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLNA was set to Unknown