Gastrointestinal neuromuscular disease
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)
Variants in FLNA cause a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, and intellectual disability.
At least 6 families reported with predominantly intestinal phenotype with dysmotility and obstruction +/- short bowel.Created: 31 Jul 2021, 1:04 a.m. | Last Modified: 31 Jul 2021, 1:10 a.m.
Panel Version: 0.63
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intestinal pseudoobstruction, neuronal, MIM# 300048; Congenital short bowel syndrome, MIM# 300048
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Intestinal pseudoobstruction, neuronal, MIM# 300048
- Congenital short bowel syndrome, MIM# 300048
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FLNA were set to 17357080; 23037936; 33464596
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 Periventricular heterotopia in males, seizures in females to Intestinal pseudoobstruction, neuronal, MIM# 300048; Congenital short bowel syndrome, MIM# 300048
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FLNA were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FLNA was added gene: FLNA was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to Periventricular heterotopia in males, seizures in females