Gen
FLNA
filamin A
- HGNC 3754(åbnes i en ny fane)
- Ensembl-gen ENSG00000196924(åbnes i en ny fane)
- NCBI Gene 2316(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- Xq28
- Koordinater
- Kromosom X: 154.348.531–154.374.634 (GRCh38)
- Exoner
- 48 exoner fordelt over 26,1 kb
- Protein
- 2.647 aminosyrer
- Arvelighed
- X-bundet recessiv
- Også kendt som
- ABP-280
- Tidligere symboler
- FLN1, FLN, OPD2, OPD1
- MANE Select-transkript
- ENST00000369850.10NM_001110556.2
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome TestKurerede rapporter relevant for dette gen
Arvelig visceral myopati, CIPO og MMIHS
- Kronisk intestinal pseudoobstruktion (CIPO)
Gentagne episoder med tarmobstruktion uden en fysisk blokering, herunder X-bundne former forårsaget af FLNA og recessive former forårsaget af ERBB3.
- 2 GenCC-indsendere vurderer den som definitiv eller stærk
Hvad viden ændrer
Når tilstanden genkendes, undgås gentagen kirurgi for mistænkt blokering, og behandlingen fokuserer på ernæring og symptomkontrol.
Arvelige medfødte hjertefejl
- X-bundet kardiel klapdysplasiX-bundet recessiv
En tilstand forårsaget af ændringer i FLNA, hvor hjerteklapperne er fortykkede og utætte, og som primært rammer mænd.
- 1 GenCC-indsender vurderer den som definitiv eller stærk
Bredere grupperinger
Epilepsi (fuld panel)
- Epilepsi
Et af 171 gener, der er knyttet til det
En hjernelidelse, kendetegnet ved episoder med unormalt øget neuronal aktivitet, som giver midlertidige episoder med sensoriske eller motoriske neurologiske funktionsforstyrrelser eller psykiske funktionsforstyrrelser. Disse episoder kan ledsages af bevidsthedstab eller krampeanfald, men behøver ikke.
- 1 GenCC-indsender vurderer den som definitiv eller stærk
Arvegang
- X-bundet recessiv
- Ændringen sidder på X-kromosomet, så én kopi påvirker mænd, som kun har ét X, mens kvinder med én kopi typisk er bærere. En bærende mor overfører den til hvert barn med en chance på en ud af to.
Sådan er FLNA opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 8,5 kb af genets 26,1 kb; 7.944 af disse baser koder for proteinet.
Sådan læser en genomtest FLNA
213
positioner i FLNA, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 26,1 kb af FLNA, inklusive introner, og ikke kun de 8,5 kb eksoner.
Træk knyttet til FLNA
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, FLNA kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of limbs
- Abnormality of radial diaphysis
- Bowed legs
- Bowed shankbone
- Bowed thighbone
- Bowing of the arm
- Bowing of the long bones
- Broad thumb
- Cone-shaped end part of the outermost hand bones
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- Coxa valga
- Curvature of digit
- Curving of inner forearm bone
- Erlenmeyer flask shaped thighbone
- Knock knees
- Short finger
- Short outermost finger bone
- Webbed fingers or toes
- Abnormality of the wide portion of a long bone
- Gap between 1st and 2nd toes
- Interphalangeal joint contracture of finger
- Joint contracture of the hand
- Long fingers
- Permanent flexion of the finger
- Short big toe
- Short finger bones
- Short fingers or toes
- Short thumb
- Abnormal shape of long bones of hand
- Absent calf bone
- Attachment of thumb close to wrist
- Breakdown of small bones of fingers
- Broad wide portion of long bone
- Cone-shaped end part of finger bones
- Dislocated radial head
- Elbow dislocation
- Elbow flexion contracture
- Hip dislocation
- Limitation of knee mobility
- Limitation of movement at ankles
- Limited elbow movement
- Limited wrist movement
- Long slender fingers
- Metacarpophalangeal joint contracture
- Pes valgus
- Short long bone of foot
- Short outermost bone of the thumb
- Short palm
- Short shaft of long bone
- Shortened long bone of hand
- Ulnar deviation of the hand
- Wrist flexion contracture
- Abnormal ankle bones
- Degeneration of small hand muscles
- Dislocated kneecap
- Dropped arches
- Fused ankle bones
- Fused wrist bones
- Fusion of wrist bones
- High-arched foot
- Mesomelic arm shortening
- Mesomelic leg shortening
- Osteolysis involving bones of the lower limbs
- Osteolysis involving bones of the upper limbs
- Preaxial polydactyly
- Progressive bowing of long bones
- Single transverse palmar crease
- Underdeveloped shoulder muscle
- Abnormal foot bone ossification
- Abnormal maturation of the hand bones
- Abnormality of the 5th long bone of foot
- Abnormality of the lower limb
- Ankle flexion contracture
- Bipartite calcaneus
- Bowing of outer large bone of the forearm
- Broad big toe
- Broad outermost bone of the thumb
- Broad outermost finger bone
- Bulbous tips of toes
- Camptodactyly of toe
- Capitate-hamate fusion
- Club feet
- Dislocated hip since birth
- Extra little finger
- Extra wrist bones
- Flared wide portion of long bone
- Fused toes
- Inability to straighten knee
- Increased density of shaft of long bone
- Irregular long bones of hand
- Lateral femoral bowing
- Limited elbow extension
- Limited knee flexion
- Long finger bone
- Long foot
- Nonossified fifth metatarsal
- Overlapping fingers
- Partial fusion of carpals
- Partial fusion of tarsals
- Radial deviation of the 2nd finger
- Rocker bottom foot
- Short humerus
- Short toe
- Shortened 3rd long bone of hand
- Shortened 4th long bone of hand
- Shortened 5th long bone of hand
- Small to absent calf bone
- Toe curvature
- Wide hand bones
- Winged shoulder blade
Abnormality of head or neck
- Abnormal facial shape
- Bad bite
- Big calvaria
- Cleft palate
- Deep philtrum
- Dense bone of skull base
- Deviated nasal septum
- Extra bones within cranial sutures
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- Fetal cystic hygroma
- Flat sella turcica
- Full cheeks
- High palate
- Highly arched eyebrow
- Increased size of nasopharyngeal adenoids
- Increased thickness of skull cap
- Little lower jaw
- Monobrow
- Narrow forehead
- Narrow mouth
- Nasal inflammation
- Prominent brow
- Prominent forehead
- Prominent nasal tip
- Receding chin
- Short neck
- Small face
- Sparse lower eyelashes
- Sparse upper eyelashes
- Thick eyebrow
- Triangular face
- Underdeveloped tissue around nostril
- Wide nasal base
- Wide nasal bridge
- Wider-than-typical soft spot of skull
- Widow's peak
- Born with teeth
- Broad forehead
- Delayed cranial suture closure
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Failure of development of all teeth
- Failure of development of more than six teeth
- Short nose
- Wide fontanelles
- Zygomatic flattening
- Abnormal dental position
- Absent frontal sinuses
- Accessory oral frenulum
- Coarse facial features
- Corners of eye widely separated
- Delayed eruption of teeth
- Depressed nasal tip
- Enlargement of craniofacial bones
- Eye folds
- Facial asymmetry
- Frontal bossing
- Full lips
- Hypoplastic frontal sinuses
- Pierre-Robin sequence
- Retraction of the tongue
- Upward slanting of the opening between the eyelids
- Bifid uvula
- Decreased size of teeth
- Deformity of the skull
- Encephalocele
- Narrow palate
- Pit in front of the ear
- Full lower lip
- Long philtrum
- Absence of a tooth
- Antegonial notching of mandible
- Big foramen magnum
- Broad face
- Delayed closure of the soft spot on the skull
- Delayed loss of baby teeth
- Flat face
- Hairy forehead
- Increased size of the mandible
- Large forehead
- Long neck
- Midface retrusion
- Multiple impacted teeth
- Obtuse angle of mandible
- Pointed chin
- Prominent back of the head
- Short chin
- Smooth philtrum
- Thick skull base
- Vertical clivus
Abnormality of the musculoskeletal system
- Abnormal formation of the hip
- Elbow contracture
- Excessive inward curvature of lower spine
- Flexed joint that cannot be straightened
- Foot pain
- Funnel chest
- Kyphoscoliosis
- Narrow chest
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- Permanent flexion of the finger or toe
- Poorly developed skeletal musculature
- Scoliosis
- Short collarbone
- Small chest
- Wavy collarbone
- Abnormal cortical bone morphology
- Abnormal skeletal development
- Double-Jointed
- Hernia
- Limitation of joint mobility
- Shorter than typical length between neck and abdomen
- Abnormal vertebral segmentation and fusion
- Abnormality of the pubic bone
- Abnormality of the ribs
- Anisospondyly
- Cervical C2/C3 vertebral fusion
- Congenital diaphragmatic hernia
- Flared iliac wing
- Fused neck
- Increased bone mineral density
- Loss of fat tissue in localized area
- High shoulder blade
- Shoulder dislocation
- Spastic diplegia
- Generalized decreased muscle tone
- Joint stiffness
- Abnormal bone structure
- Anterior concavity of thoracic vertebrae
- Anteriorly placed odontoid process
- Coat hanger sign of ribs
- Flattened vertebrae
- Low muscle tone, in neonatal onset
- Multiple joint contractures
- Muscle degeneration
- Short ribs
- Small shoulder blade
- Small wings of the pelvic girdle
- Spondylolysis
Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Atrial septal dilatation
- Dilatation of the sinus of Valsalva
- Hole in heart wall separating two lower heart chambers
- Increased blood pressure in blood vessels of lungs
- Pulmonic regurgitation
- Raynaud phenomenon
- Tricuspid regurgitation
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- Abnormal cardiovascular system morphology
- Aortic regurgitation
- Mitral regurgitation
- Patent ductus arteriosus
- Abnormal cardiac septum morphology
- Abnormal heart valve morphology
- Abnormality of the heart
- Mitral valve prolapse
- Aortic valve has two leaflets rather than three
- Bulge in wall of large artery that carries blood away from heart
- Patent foramen ovale
- Stroke
- Restrictive cardiomyopathy
- Right atrial enlargement
- Cardiac failure
- Cor pulmonale
- Short chordae tendineae of the mitral valve
- Short chordae tendineae of the tricuspid valve
- Tricuspid valve prolapse
Abnormality of the nervous system
- Intellectual disability
- Obstructive sleep apnea
- Small cerebellum
- Split spine
- Thin corpus callosum
- Intellectual disability, mild
- Abnormal shape of nervous system
- Cognitive impairment
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- Global developmental delay
- Periventricular heterotopia
- Seizure affecting one half of brain
- Too much cerebrospinal fluid in the brain
- Chiari malformation
- Epilepsy
- Myelomeningocele
- Spina bifida occulta
- Underdevelopment of part of brain called corpus callosum
- Periventricular nodular heterotopia
- Abnormal gait
- Abnormality of neuronal migration
- Delayed speech and language development
- Gray matter heterotopia
- Motor delay
Abnormality of the genitourinary system
- Hydronephrosis
- Narrowing of the ureter
- Hypospadias
- Narrowing of the urethra
- Ureteral obstruction
- Vesicoureteral reflux
- Displacement of the urethral meatus
- Hydroureter
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Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- GenCC og ClinGen, udgivet 2026-10-16: hvilke sygdomme genet er knyttet til, og hvor stærkt.
- ACMG-listen over sekundære fund, SF v3.2.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). FLNA-genet: filamin A. Hentet 16. oktober 2026, fra https://dantelabs.com/da/genes/flna
Dante Labs. FLNA-genet: filamin A [Internet]. [citeret 16. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/flna
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger