Skeletal Dysplasia_Fetal
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)
Multiple FLNA-related disorders are relevant to this panel.
Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs
Sources: Expert listCreated: 23 Jul 2020, 11:28 p.m. | Last Modified: 21 Dec 2021, 7:48 a.m.
Panel Version: 0.1602
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
Melnick-Needles syndrome, 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244; Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Expert list
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- None
- 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
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 Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLNA was set to Unknown