Clefting disorders
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 32 panels
0 reviews
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
-
- UKGTN
- Expert Review Green
- Phenotypes
-
- OTOPALATODIGITAL SYNDROME, TYPE I
- Otopalatodigital syndrome, type II, 304120 (includes clefting)
- Orofacial Clefting with skeletal anomalies
- OPD1, OTOPALATODIGITAL SYNDROME, TYPE II
- OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1
- FMD1
- Melnick-Needles syndrome, 309350 (includes clefting)
- Otopalatodigital syndrome, type I, 311300 (includes clefting)
- 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
- Skeletal Dysplasia_Fetal
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- 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, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FLNA was added gene: FLNA was added to Clefting_GEL. Sources: Expert Review Green,UKGTN 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) Publications for gene: FLNA were set to 10706363; 20301567; 12612583; 16538226 Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME, TYPE I; Otopalatodigital syndrome, type II, 304120 (includes clefting); Orofacial Clefting with skeletal anomalies; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1; Melnick-Needles syndrome, 309350 (includes clefting); Otopalatodigital syndrome, type I, 311300 (includes clefting)