Gen
FLNA
filamin A
- HGNC 3754(otevře se na nové kartě)
- Gen v Ensembl ENSG00000196924(otevře se na nové kartě)
- NCBI Gene 2316(otevře se na nové kartě)
Shrnutí
- Cytogenetická poloha
- Xq28
- Souřadnice
- Chromozom X: 154 348 531–154 374 634 (GRCh38)
- Exony
- 48 exonů na 26,1 kb
- Protein
- 2 647 aminokyselin
- Dědičnost
- X-vázaně recesivní
- Další názvy
- ABP-280
- Předchozí symboly
- FLN1, FLN, OPD2, OPD1
- Transkript MANE Select
- ENST00000369850.10NM_001110556.2
- Typ lokusu
- gene with protein product
- Velmi vysoká
- Jistá
- Nízká
- Velmi nízká
Referenční genomGRCh38hg38
Pozice na stránkách genů a variant se řídí touto volbou v tomto prohlížeči.
Přečtěte si FLNA i zbytek svého genomu jediným testem.
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Objednejte si Genome TestKurátorované reporty související s tímto genem
Hereditary Visceral Myopathy, CIPO & MMIHS
- Chronic intestinal pseudo-obstruction (CIPO)
Recurrent episodes of bowel obstruction without a physical blockage, including X-linked forms caused by FLNA and recessive forms caused by ERBB3.
- 2 zadavatelů GenCC ji hodnotí jako definitivní nebo silnou
Co přináší znalost
Recognising the condition avoids repeated surgery for suspected blockage and focuses care on nutrition and symptom control.
Inherited Congenital Heart Defects
- X-Linked Cardiac Valvular DysplasiaX-vázaně recesivní
A condition caused by changes in FLNA in which the heart valves are thickened and leaky, mainly affecting males.
- 1 zadavatel GenCC ji hodnotí jako definitivní nebo silnou
Širší skupiny
Epilepsy (Full Panel)
- Epilepsy
Jeden z 171 genů spojených s touto vazbou
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 1 zadavatel GenCC ji hodnotí jako definitivní nebo silnou
Dědičnost
- X-vázaně recesivní
- Změna je na chromozomu X, takže jedna kopie ovlivní muže, kteří mají jeden chromozom X, zatímco ženy s jednou kopií bývají nositelkami. Matka nositelka ji předá každému dítěti s pravděpodobností jedna ku dvěma.
Jak je FLNA uspořádán
- Kódující sekvence
- Netranslatovaná oblast
- Intron
- Směr transkripce
- Známá místa způsobující onemocnění
Exony transkriptu MANE Select genu (verze v1.5) z databází NCBI a EMBL-EBI, na referenčním genomu GRCh38.
Pásy chromozomů z ideogramu UCSC GRCh38 (2022-10-29).
Okolní geny z Ensembl, verze 116, na GRCh38.
Exony tvoří 8,5 kb z 26,1 kb genu; 7 944 těchto bází kódují protein.
Jak genetický test čte FLNA
213
pozic v genu FLNA, které ClinVar řadí mezi patogenní nebo pravděpodobně patogenní
Žádné z nich neleží v oblasti, kterou krátká čtení obtížně zachycují.
Celý genom pokrývá všech 26,1 kb genu FLNA, včetně intronů, nikoli jen 8,5 kb exonů.
Rysy spojené s FLNA
Human Phenotype Ontology uvádí tyto rysy jako příznaky vzácných onemocnění, která může způsobit FLNA. Na stránce každého rysu najdete další geny, které jsou s ním spojené.
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
Zobrazit ještě 100 rysů
- 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
Zobrazit ještě 81 rysů
- 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
Zobrazit ještě 39 rysů
- 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
Zobrazit ještě 19 rysů
- 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
Zobrazit ještě 15 rysů
- 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
Zobrazit ještě 1 rys
Externí odkazy
Záznamy o genu
Transkript
Protein
Odkud údaje pocházejí
- HGNC: symbol genu, název, další symboly a umístění.
- MANE Select v1.5, z NCBI a EMBL-EBI: transkript, jeho exony a kódující sekvence.
- GenCC a ClinGen, vydání 2026-10-16: s jakými onemocněními je gen spojen a jak silná je tato souvislost.
- Seznam sekundárních nálezů ACMG, SF v3.2.
- ClinVar a stratifikace GIAB: známá místa způsobující onemocnění a oblasti, které krátká čtení obtížně zachycují.
- Human Phenotype Ontology, verze 2026-09-01: rysy spojené s tímto genem. Více informací najdete na hpo.jax.org.
- Vydání dat 2026.10.16-c6eea6bf.
Citovat tuto stránku
Dante Labs. (b.d.). Gen FLNA: filamin A. Staženo 17. října 2026, z https://dantelabs.com/cs/genes/flna
Dante Labs. Gen FLNA: filamin A [Internet]. [citováno 17. října 2026]. Dostupné z: https://dantelabs.com/cs/genes/flna
Jeden test. Odpovědi na celý život.
Od 449 $Doprava zdarma · Výsledky za 6–8 týdnů